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Gap junction beta-1 protein (Connexin-32) (Cx32) (GAP junction 28 kDa liver protein)

 CXB1_HUMAN              Reviewed;         283 AA.
P08034; B2R8R2; D3DVV2; Q5U0S4;
01-AUG-1988, integrated into UniProtKB/Swiss-Prot.
01-AUG-1988, sequence version 1.
25-OCT-2017, entry version 190.
RecName: Full=Gap junction beta-1 protein;
AltName: Full=Connexin-32;
Short=Cx32;
AltName: Full=GAP junction 28 kDa liver protein;
Name=GJB1; Synonyms=CX32;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
PubMed=2875078; DOI=10.1083/jcb.103.3.767;
Kumar N.M., Gilula N.B.;
"Cloning and characterization of human and rat liver cDNAs coding for
a gap junction protein.";
J. Cell Biol. 103:767-776(1986).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Subthalamic nucleus;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
Phelan M., Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor
vector.";
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Liver, Placenta, and Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-17.
Neuhaus I.M., Bone L., Wang S., Ionasescu V., Werner R.;
Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases.
[7]
TOPOLOGY.
PubMed=2460334;
Milks L.C., Kumar N.M., Houghten R., Unwin N., Gilula N.B.;
"Topology of the 32-kd liver gap junction protein determined by site-
directed antibody localizations.";
EMBO J. 7:2967-2975(1988).
[8]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-258; SER-266 AND
SER-277, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[9]
3D-STRUCTURE MODELING OF 19-209, AND STRUCTURE BY ELECTRON
CRYOMICROSCOPY (20 ANGSTROMS).
PubMed=15383278; DOI=10.1016/j.molcel.2004.08.016;
Fleishman S.J., Unger V.M., Yeager M., Ben-Tal N.;
"A Calpha model for the transmembrane alpha helices of gap junction
intercellular channels.";
Mol. Cell 15:879-888(2004).
[10]
REVIEW ON CMTX1 VARIANTS.
PubMed=9888385;
DOI=10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A;
Nelis E., Haites N., van Broeckhoven C.;
"Mutations in the peripheral myelin genes and associated genes in
inherited peripheral neuropathies.";
Hum. Mutat. 13:11-28(1999).
[11]
VARIANTS CMTX1 SER-12; MET-139; TRP-142; ARG-156; SER-172 AND LYS-186.
PubMed=8266101; DOI=10.1126/science.8266101;
Bergoffen J., Schere S.S., Wang S., Oronzi Scott M., Bone L.J.,
Paul D.L., Chen K., Lensch M.W., Chance P.F., Fischbeck K.H.;
"Connexin mutations in X-linked Charcot-Marie-Tooth disease.";
Science 262:2039-2042(1993).
[12]
VARIANTS CMTX1 MET-35; ALA-158; THR-182 AND 111-HIS--HIS-116 DEL.
Cherryson A.K., Yeung L., Kennerson M.L., Nicholson G.A.;
"Mutational studies in X-linked Charcot-Marie-Tooth disease (CMTX).";
Am. J. Hum. Genet. 55:A216-A216(1994).
[13]
VARIANTS CMTX1 GLN-15; PHE-60; ILE-63; LEU-143 DEL; LYS-208 AND
TRP-215.
PubMed=8162049; DOI=10.1093/hmg/3.1.29;
Fairweather N., Bell C., Cochrane S., Chelly J., Wang S.,
Mostacciuolo M.L., Monaco A.P., Haites N.E.;
"Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-
Tooth disease (CMTX1).";
Hum. Mol. Genet. 3:29-34(1994).
[14]
VARIANTS CMTX1 GLY-102 AND TRP-142.
PubMed=8004109; DOI=10.1093/hmg/3.2.355;
Ionasescu V., Searby C., Ionasescu R.;
"Point mutations of the connexin32 (GJB1) gene in X-linked dominant
Charcot-Marie-Tooth neuropathy.";
Hum. Mol. Genet. 3:355-358(1994).
[15]
VARIANT CMTX1 MET-38.
PubMed=7833935; DOI=10.1093/hmg/3.9.1699;
Orth U., Fairweather N., Exler M.-C., Schwinger E., Gal A.;
"X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-
methionine substitution of connexin32.";
Hum. Mol. Genet. 3:1699-1700(1994).
[16]
VARIANTS CMTX1 LEU-13; ASN-30; CYS-65; MET-95; ARG-133 AND ARG-156.
PubMed=7477983; DOI=10.1212/WNL.45.10.1863;
Bone L.J., Dahl N., Lensch M.W., Chance P.F., Kelly T., le Guern E.,
Magi S., Parry G., Shapiro H., Wang S., Fischbeck K.H.;
"New connexin32 mutations associated with X-linked Charcot-Marie-Tooth
disease.";
Neurology 45:1863-1866(1995).
[17]
VARIANTS CMTX1 SER-3; GLN-22; SER-77; ARG-80; GLY-102; TRP-142 AND
TRP-164.
PubMed=8737658;
DOI=10.1002/(SICI)1096-8628(19960614)63:3<486::AID-AJMG14>3.0.CO;2-I;
Ionasescu V., Ionasescu R., Searby C.;
"Correlation between connexin 32 gene mutations and clinical phenotype
in X-linked dominant Charcot-Marie-Tooth neuropathy.";
Am. J. Med. Genet. 63:486-491(1996).
[18]
VARIANTS CMTX1 GLY-22; PRO-22 AND TRP-215.
PubMed=8698335; DOI=10.1007/s004390050183;
Ressot C., Latour P., Blanquet-Grossard F., Sturtz F., Duthel S.,
Battin J., Corbillon E., Ollagnon E., Serville F., Vandenberghe A.,
Dautigny A., Pham-Dinh D.;
"X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new
mutations in the connexin32 gene.";
Hum. Genet. 98:172-175(1996).
[19]
VARIANTS CMTX1 THR-34; GLN-75 AND TRP-107.
PubMed=8829637;
DOI=10.1002/(SICI)1098-1004(1996)7:2<167::AID-HUMU14>3.0.CO;2-0;
Tan C.C., Ainsworth P.J., Hahn A.F., Macleod P.M.;
"Novel mutations in the connexin 32 gene associated with X-linked
Charcot-Marie tooth disease.";
Hum. Mutat. 7:167-171(1996).
[20]
VARIANT CMTX1 CYS-7.
PubMed=8807343;
DOI=10.1002/(SICI)1098-1004(1996)8:1<83::AID-HUMU14>3.3.CO;2-#;
Schiavon F., Fracasso C., Mostacciuolo M.L.;
"Novel missense mutation of the connexin32 (GJB1) gene in X-linked
dominant Charcot-Marie-Tooth neuropathy.";
Hum. Mutat. 8:83-84(1996).
[21]
VARIANTS CMTX1 LEU-26 AND SER-53.
PubMed=8889588;
DOI=10.1002/(SICI)1098-1004(1996)8:3<270::AID-HUMU12>3.3.CO;2-G;
Yoshimura T., Ohnishi A., Yamamoto T., Fukushima Y., Kitani M.,
Kobayashi T.;
"Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-
Tooth disease type X families.";
Hum. Mutat. 8:270-272(1996).
[22]
VARIANT CMTX1 SER-3.
PubMed=8956046;
DOI=10.1002/(SICI)1098-1004(1996)8:4<375::AID-HUMU14>3.0.CO;2-#;
Gupta S., Benstead T., Neumann P., Guernsey D.;
"A point mutation in codon 3 of connexin-32 is associated with X-
linked Charcot-Marie-Tooth neuropathy.";
Hum. Mutat. 8:375-376(1996).
[23]
VARIANT CMTX1 TRP-164.
PubMed=8733054; DOI=10.1136/jmg.33.5.413;
Oterino A., Monton F.I., Cabrera V.M., Pinto F., Gonzalez A.,
Lavilla N.R.;
"Arginine-164-tryptophan substitution in connexin32 associated with X
linked dominant Charcot-Marie-Tooth disease.";
J. Med. Genet. 33:413-415(1996).
[24]
VARIANT CMTX1 TYR-49.
PubMed=8628473; DOI=10.1212/WNL.46.5.1311;
Timmerman V., de Jonghe P., Spoelders P., Simokovic S., Loefgren A.,
Nelis E., Vance J., Martin J.-J., van Broeckhoven C.;
"Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type
2 families with chromosomes 1p35-p36 and Xq13.";
Neurology 46:1311-1318(1996).
[25]
VARIANTS CMTX1 VAL-34; HIS-90; TRP-107; TRP-142; PHE-156 AND LYS-186.
PubMed=9018031;
Latour P., Fabreguette A., Ressot C., Blanquet-Grossard F.,
Antoine J.-C., Calvas P., Chapon F., Corbillon E., Ollagnon E.,
Sturtz F., Boucherat M., Chazot G., Dautigny A., Pham-Dinh D.,
Vandenberghe A.;
"New mutations in the X-linked form of Charcot-Marie-Tooth disease.";
Eur. Neurol. 37:38-42(1997).
[26]
VARIANTS CMTX1 TRP-15; ILE-63; CYS-65; SER-87; PRO-89; MET-139 AND
ARG-199.
PubMed=9099841; DOI=10.1007/s004390050396;
Janssen E.A.M., Kemp S., Hensels G.W., Sie O.G.,
de Die-Smulders C.E.M., Hoogendijk J.E., de Visser M., Bolhuis P.A.;
"Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth
disease (CMTX1).";
Hum. Genet. 99:501-505(1997).
[27]
VARIANTS CMTX1 ALA-23; SER-64; SER-87; TRP-164; GLN-164; SER-183;
HIS-183; CYS-183 AND TRP-215.
PubMed=9187667; DOI=10.1007/s004390050442;
Bort S., Nelis E., Timmerman V., Sevilla T., Cruz-Martinez A.,
Martinez F., Millan J.M., Arpa J., Vilchez J.J., Prieto F.,
van Broeckhoven C., Palau F.;
"Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of
Spanish ancestry with Charcot-Marie-Tooth disease and hereditary
neuropathy with liability to pressure palsies.";
Hum. Genet. 99:746-754(1997).
[28]
VARIANTS CMTX1 GLN-22; GLN-75; TRP-75; TRY-107; MET-139 AND VAL-194.
PubMed=9272161; DOI=10.1007/s004390050522;
Silander K., Meretoja P., Pihko H., Juvonen V., Issakainen J.,
Aula P., Savontaus M.L.;
"Screening for connexin 32 mutations in Charcot-Marie-Tooth disease
families with possible X-linked inheritance.";
Hum. Genet. 100:391-397(1997).
[29]
VARIANTS CMTX1 PHE-25; LEU-26; ALA-87 AND HIS-238.
PubMed=8990008;
DOI=10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M;
Nelis E., Simokovic S., Timmerman V., Loefgren A., Backhovens H.,
de Jonghe P., Martin J.-J., Van Broeckhoven C.;
"Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-
Tooth neuropathy type 1: identification of five new mutations.";
Hum. Mutat. 9:47-52(1997).
[30]
VARIANTS THR-34; ILE-84; MET-95; TRP-107; ARG-133; LEU-141; ALA-158;
ASN-203; SER-205 AND 213-ILE-ILE-214 DELINS LEU.
PubMed=9401007;
DOI=10.1002/(SICI)1098-1004(1997)10:6<443::AID-HUMU5>3.0.CO;2-E;
Rouger H., Leguern E., Birouk N., Gouider R., Tardieu S., Plassart E.,
Gugenheim M., Vallat J.-M., Louboutin J.-P., Bouche P., Agid Y.,
Brice A.;
"Charcot-Marie-Tooth disease with intermediate motor nerve conduction
velocities: characterization of 14 Cx32 mutations in 35 families.";
Hum. Mutat. 10:443-452(1997).
[31]
VARIANTS CMTX1 ARG-3; SER-3; CYS-7; SER-12; LEU-13; MET-13; LYS-14;
GLN-15; TRP-15; PRO-16; SER-20; ASP-21; GLN-22; PRO-22; GLY-22;
ALA-23; PHE-25; LEU-26; ASN-28; THR-28; LEU-29; ASN-30; THR-34;
VAL-34; MET-35; MET-38; VAL-40; LYS-41; LEU-44; TYR-49; SER-53;
PHE-56; PHE-60; ILE-63; SER-64; CYS-65; GLN-75; PRO-75; TRP-75;
SER-77; ARG-80; CYS-85; PHE-85; ALA-86; ASN-86; SER-86; ALA-87;
LEU-87; SER-87; PRO-89; HIS-90; VAL-93; GLN-94; TYR-94; MET-95;
TYR-100; GLY-102; GLU-103; TRP-107; HIS-111--116-HIS DEL; ASN-124;
PRO-128; ARG-133; MET-139; TRP-142; GLU-142; LEU-143 DEL; ARG-156;
PHE-156; CYS-157; ALA-158; ARG-158; HIS-160; PRO-161; TRP-164;
GLN-164; SER-172; LEU-172; TYR-178; ARG-179; LEU-180; MET-181;
THR-182; CYS-183; SER-183; HIS-183; THR-185 DEL; LYS-186; GLU-187;
GLY-189; ILE-189; 191-THR--PHE-193 DEL; CYS-193; PHE-198; ARG-199;
ARG-201; VAL-204; SER-205; LYS-208; TRP-215; CYS-219; HIS-219;
GLY-220; CYS-230; LEU-230; CYS-235 AND HIS-238.
PubMed=9361298; DOI=10.1006/nbdi.1997.0152;
Bone L.J., Deschenes S.M., Balice-Gordon R.J., Fischbeck K.H.,
Scherer S.S.;
"Connexin32 and X-linked Charcot-Marie-Tooth disease.";
Neurobiol. Dis. 4:221-230(1997).
[32]
VARIANTS CMTX1 PRO-22; GLY-22; VAL-34; PRO-50; PHE-56; TRP-75; HIS-90;
TRP-107; ARG-133; TRP-142; PHE-156; SER-159; ARG-184; LYS-186 AND
TRP-215.
PubMed=10732813; DOI=10.1007/s100480050017;
Latour P., Levy N., Paret M., Chapon F., Chazot G., Clavelou P.,
Couratier P., Dumas R., Ollagnon E., Pouget J., Setiey A.,
Vallat J.-M., Boucherat M., Fontes M., Vandenberghe A.;
"Mutations in the X-linked form of Charcot-Marie-Tooth disease in the
French population.";
Neurogenetics 1:117-123(1997).
[33]
VARIANTS CMTX1 MET-37; HIS-57; LEU-172 AND ALA-177.
PubMed=9856562;
DOI=10.1002/(SICI)1096-8628(19981204)80:4<352::AID-AJMG9>3.0.CO;2-R;
Ikegami T., Lin C., Kato M., Itoh A., Nonaka I., Kurimura M.,
Hirayabashi H., Shinohara Y., Mochizuki A., Hayasaka K.;
"Four novel mutations of the connexin 32 gene in four Japanese
families with Charcot-Marie-Tooth disease type 1.";
Am. J. Med. Genet. 80:352-355(1998).
[34]
VARIANTS CMTX1 SER-3; GLN-22; ALA-70; SER-77; ARG-80; MET-95; GLY-102;
TRP-142; TRP-164 AND SER-180.
PubMed=10873293; DOI=10.1006/cbir.1998.0387;
Ionasescu V.V.;
"X-linked Charcot-Marie-Tooth disease and connexin32.";
Cell Biol. Int. 22:807-813(1998).
[35]
VARIANT CMTX1 ARG-201.
PubMed=9452025;
Sillen A., Anneren G., Dahl N.;
"A novel mutation (C201R) in the transmembrane domain of connexin 32
in severe X-linked Charcot-Marie-Tooth disease.";
Hum. Mutat. Suppl. 1:S8-S9(1998).
[36]
VARIANTS CMTX1 TRP-15; PHE-60; ALA-86; TYR-100; CYS-133 AND SER-205.
PubMed=9452099;
Sorour E., Upadhyaya M.;
"Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).";
Hum. Mutat. Suppl. 1:S242-S247(1998).
[37]
VARIANTS CMTX1 GLN-22; ARG-58; ILE-63; LEU-172; ASP-175 AND PHE-204.
PubMed=9633821;
DOI=10.1002/(SICI)1098-1004(1998)12:1<59::AID-HUMU9>3.0.CO;2-A;
Silander K., Meretoja P., Juvonen V., Ignatius J., Pihko H.,
Saarinen A., Wallden T., Herrgaard E., Aula P., Savontaus M.-L.;
"Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth
disease and related neuropathies.";
Hum. Mutat. 12:59-68(1998).
[38]
VARIANTS CMTX1 SER-53 AND ARG-172, AND CHARACTERIZATION OF VARIANTS
CMTX1 SER-53 AND ARG-172.
PubMed=9469569;
DOI=10.1002/(SICI)1097-4547(19980115)51:2<154::AID-JNR4>3.0.CO;2-C;
Yoshimura T., Satake M., Ohnishi A., Tsutsumi Y., Fujikura Y.;
"Mutations of connexin32 in Charcot-Marie-Tooth disease type X
interfere with cell-to-cell communication but not cell proliferation
and myelin-specific gene expression.";
J. Neurosci. Res. 51:154-161(1998).
[39]
VARIANTS CMTX1 TRP-9; GLN-22; THR-28; THR-30; THR-34; MET-35; TRP-107;
MET-127; PRO-131; ALA-158; THR-182; PHE-192 AND ILE-239.
PubMed=9818870; DOI=10.1212/WNL.51.5.1412;
Nicholson G.A., Yeung L., Corbett A.;
"Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth
families: ten novel mutations.";
Neurology 51:1412-1416(1998).
[40]
VARIANTS CMTX1 GLN-22; VAL-39; MET-43; PHE-60; THR-104; MET-139;
GLN-142; TRP-142; VAL-149 AND GLU-177.
PubMed=10586284; DOI=10.1111/j.1749-6632.1999.tb08621.x;
Williams M.M., Tyfield L.A., Jardine P., Lunt P.W., Stevens D.L.,
Turnpenny P.D.;
"HMSN and HNPP. Laboratory service provision in the south west of
England -- two years' experience.";
Ann. N. Y. Acad. Sci. 883:500-503(1999).
[41]
VARIANTS CMTX1 ILE-55; GLU-120 AND GLN-164.
PubMed=10220155;
DOI=10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU18>3.0.CO;2-S;
Karadimas C., Panas M., Chronopoulou P., Avramopoulos D.,
Vassilopoulos D.;
"Three novel mutations in the gap junction beta 1 (GJB1) gene coding
region identified in Charcot-Marie-Tooth patients of Greek origin:
T55I, R164Q, V120E.";
Hum. Mutat. 13:339-339(1999).
[42]
VARIANT CMTX1 SER-205.
PubMed=10071100; DOI=10.1136/jnnp.66.2.202;
Baehr M., Andres F., Timmerman V., Nelis M.E., Van Broeckhoven C.,
Dichgans J.;
"Central visual, acoustic, and motor pathway involvement in a Charcot-
Marie-Tooth family with an Asn205Ser mutation in the connexin 32
gene.";
J. Neurol. Neurosurg. Psych. 66:202-206(1999).
[43]
CHARACTERIZATION OF VARIANTS CMTX1 LYS-208; GLN-215; TRP-215; HIS-238
AND GLY-280.
PubMed=10234007;
Castro C., Gomez-Hernandez J.M., Silander K., Barrio L.C.;
"Altered formation of hemichannels and gap junction channels caused by
C-terminal connexin-32 mutations.";
J. Neurosci. 19:3752-3760(1999).
[44]
VARIANTS CMTX1 MET-91 AND HIS-211.
PubMed=11140841; DOI=10.1034/j.1399-0004.2000.580511.x;
Bissar-Tadmouri N., Parman Y., Boutrand L., Deymeer F., Serdaroglu P.,
Vandenberghe A., Battaloglu E.;
"Mutational analysis and genotype/phenotype correlation in Turkish
Charcot-Marie-Tooth type 1 and HNPP patients.";
Clin. Genet. 58:396-402(2000).
[45]
VARIANT CMTX1 TYR-126.
PubMed=11030070; DOI=10.1053/ejpn.2000.0311;
Verhelst H.E., Lofgren A., Van Coster R.N.;
"A family with X-linked dominant Charcot-Marie-Tooth caused by a
connexin32 mutation.";
Eur. J. Paediatr. Neurol. 4:235-238(2000).
[46]
VARIANT CMTX1 ARG-59.
PubMed=10894999; DOI=10.1159/000008196;
Felice K.J., Seltzer W.K.;
"Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations
[G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.";
Eur. Neurol. 44:61-63(2000).
[47]
VARIANTS CMTX1 20-ASN-SER-21; LYS-34; ARG-80; VAL-90; VAL-93; TRP-107;
TRP-142; GLN-164; HIS-183; LYS-186; LEU-193 AND LYS-208.
PubMed=10737979;
DOI=10.1002/(SICI)1098-1004(200004)15:4<340::AID-HUMU6>3.3.CO;2-P;
Mersiyanova I.V., Ismailov S.M., Polyakov A.V., Dadali E.L.,
Fedotov V.P., Nelis E., Loefgren A., Timmerman V., Van Broeckhoven C.,
Evgrafov O.V.;
"Screening for mutations in the peripheral myelin genes PMP22, MPZ and
Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.";
Hum. Mutat. 15:340-347(2000).
[48]
ERRATUM.
Mersiyanova I.V., Ismailov S.M., Polyakov A.V., Dadali E.L.,
Fedotov V.P., Nelis E., Loefgren A., Timmerman V., Van Broeckhoven C.,
Evgrafov O.V.;
Hum. Mutat. 16:175-175(2000).
[49]
VARIANTS CMTX1 LEU-69; GLN-142 AND GLN-164.
PubMed=10923043;
DOI=10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5;
Yoshihara T., Yamamoto M., Doyu M., Misu K., Hattori N., Hasegawa Y.,
Mokuno K., Mitsuma T., Sobue G.;
"Mutations in the peripheral myelin protein zero and connexin32 genes
detected by non-isotopic RNase cleavage assay and their phenotypes in
Japanese patients with Charcot-Marie-Tooth disease.";
Hum. Mutat. 16:177-178(2000).
[50]
VARIANT CMTX1 ILE-8.
PubMed=10938190; DOI=10.1007/s100720070105;
Di Iorio G., Cappa V., Ciccodicola A., Sampaolo S., Ammendola A.,
Sanges G., Giugliano R., D'Urso M.;
"A new de novo mutation of the connexin-32 gene in a patient with X-
linked Charcot-Marie-Tooth type 1 disease.";
Neurol. Sci. 21:109-112(2000).
[51]
VARIANTS CMTX1 GLY-22; THR-34; VAL-34; PHE-56; ILE-84; MET-91; ASP-94;
GLN-94; MET-95; TRP-107; ILE-130; ARG-133; LEU-141; GLN-142; ALA-158;
ASP-159; TRP-164; GLN-164; LYS-186; ARG-199; ASN-203; SER-205;
213-ILE-ILE-214 DELINS LEU AND TRP-215, AND CHARACTERIZATION OF
VARIANTS CMTX1 GLY-22; THR-34; PHE-56; GLN-94; MET-95; LYS-186 AND
TRP-215.
PubMed=11571214; DOI=10.1093/brain/124.10.1958;
Dubourg O., Tardieu S., Birouk N., Gouider R., Leger J.M.,
Maisonobe T., Brice A., Bouche P., LeGuern E.;
"Clinical, electrophysiological and molecular genetic characteristics
of 93 patients with X-linked Charcot-Marie-Tooth disease.";
Brain 124:1958-1967(2001).
[52]
VARIANT CMTX1 GLY-208.
PubMed=11180613;
DOI=10.1002/1098-1004(200102)17:2<157::AID-HUMU22>3.0.CO;2-E;
Kochanski A., Lofgren A., Jedrzejowska H., Ryniewicz B.,
Czarny-Ratajczak M., Barciszewska A.-M., Samocko J.,
Hausmanowa-Petrusewicz I., De Jonghe P., Timmerman V.,
Latos-Bielenska A.;
"A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-
Tooth disease.";
Hum. Mutat. 17:157-157(2001).
[53]
VARIANTS CMTX1 CYS-7; PRO-8; GLN-22; PRO-25; ASN-30; CYS-59; MET-139;
LEU-143 DEL; SER-151; TRP-164 AND LEU-184.
PubMed=11438991; DOI=10.1002/humu.1147;
Mostacciuolo M.L., Righetti E., Zortea M., Bosello V., Schiavon F.,
Vallo L., Merlini L., Siciliano G., Fabrizi G.M., Rizzuto N.,
Milani M., Baratta S., Taroni F.;
"Charcot-Marie-Tooth disease type I and related demyelinating
neuropathies: mutation analysis in a large cohort of Italian
families.";
Hum. Mutat. 18:32-41(2001).
[54]
VARIANT CMTX1 HIS-65.
PubMed=11562788;
Seeman P., Mazanec R., Ctvrteckova M., Smilkova D.;
"Charcot-Marie-Tooth type X: a novel mutation in the Cx32 gene with
central conduction slowing.";
Int. J. Mol. Med. 8:461-468(2001).
[55]
VARIANTS CMTX1 TRP-26; PHE-64; TRP-142; TRP-164 AND TRP-215.
PubMed=11437164; DOI=10.1007/s004150170183;
Young P., Grote K., Kuhlenbaeumer G., Debus O., Kurlemann H.,
Halfter H., Funke H., Ringelstein E.B., Stoegbauer F.;
"Mutation analysis in Chariot-Marie Tooth disease type 1: point
mutations in the MPZ gene and the GJB1 gene cause comparable
phenotypic heterogeneity.";
J. Neurol. 248:410-415(2001).
[56]
VARIANT CMTX1 ILE-55.
PubMed=11723288; DOI=10.1212/WNL.57.10.1906;
Panas M., Kalfakis N., Karadimas C., Vassilopoulos D.;
"Episodes of generalized weakness in two sibs with the C164T mutation
of the connexin 32 gene.";
Neurology 57:1906-1908(2001).
[57]
VARIANTS CMTX1 TRP-15; GLN-22; GLY-102; PRO-108; ILE-205 AND TRP-215.
PubMed=11835375; DOI=10.1002/ana.10089;
Boerkoel C.F., Takashima H., Garcia C.A., Olney R.K., Johnson J.,
Berry K., Russo P., Kennedy S., Teebi A.S., Scavina M., Williams L.L.,
Mancias P., Butler I.J., Krajewski K., Shy M., Lupski J.R.;
"Charcot-Marie-Tooth disease and related neuropathies: mutation
distribution and genotype-phenotype correlation.";
Ann. Neurol. 51:190-201(2002).
[58]
VARIANTS CMTX1 TRP-142 AND TYR-168.
PubMed=12325071; DOI=10.1002/ana.10305;
Paulson H.L., Garbern J.Y., Hoban T.F., Krajewski K.M., Lewis R.A.,
Fischbeck K.H., Grossman R.I., Lenkinski R., Kamholz J.A., Shy M.E.;
"Transient central nervous system white matter abnormality in X-linked
Charcot-Marie-Tooth disease.";
Ann. Neurol. 52:429-434(2002).
[59]
VARIANTS CMTX1 TRP-75; GLN-75; VAL-120 DEL; MET-139; LYS-146; ASP-147;
VAL-209 DEL AND CYS-264.
PubMed=12402337; DOI=10.1002/humu.10134;
Numakura C., Lin C., Ikegami T., Guldberg P., Hayasaka K.;
"Molecular analysis in Japanese patients with Charcot-Marie-Tooth
disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.";
Hum. Mutat. 20:392-398(2002).
[60]
VARIANTS CMTX1 CYS-24; ARG-55; ASP-125 AND SER-153.
PubMed=12185164; DOI=10.1136/jnnp.73.3.304;
Lee M.-J., Nelson I., Houlden H., Sweeney M.G., Hilton-Jones D.,
Blake J., Wood N.W., Reilly M.M.;
"Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth
disease.";
J. Neurol. Neurosurg. Psych. 73:304-306(2002).
[61]
CHARACTERIZATION OF VARIANTS CMTX ILE-34; LYS-34; THR-34; VAL-34;
MET-35; MET-37; MET-38; VAL-40; GLN-75; PRO-75; TRP-75; ILE-205;
VAL-213; CYS-219; HIS-219; GLY-220; CYS-230; LEU-230; HIS-238 AND
ILE-239.
PubMed=12460545; DOI=10.1006/nbdi.2002.0545;
Yum S.W., Kleopa K.A., Shumas S., Scherer S.S.;
"Diverse trafficking abnormalities of connexin32 mutants causing
CMTX.";
Neurobiol. Dis. 11:43-52(2002).
[62]
VARIANT CMTX1 THR-40.
PubMed=12536289; DOI=10.1007/s100720200061;
Ma W., Farrukh Nizam M., Grewal R.P.;
"X-linked Charcot-Marie-Tooth disease caused by a novel point mutation
in the connexin-32 gene.";
Neurol. Sci. 23:195-197(2002).
[63]
VARIANT CMTX1 PRO-49.
PubMed=12207932; DOI=10.1016/S0960-8966(02)00021-4;
Street V.A., Meekins G., Lipe H.P., Seltzer W.K., Carter G.T.,
Kraft G.H., Bird T.D.;
"Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel
mutations in the MPZ and Cx 32 genes.";
Neuromuscul. Disord. 12:643-650(2002).
[64]
CHARACTERIZATION OF VARIANT CMTX1 CYS-85.
PubMed=11891346; DOI=10.1073/pnas.261713499;
Abrams C.K., Bennett M.V.L., Verselis V.K., Bargiello T.A.;
"Voltage opens unopposed gap junction hemichannels formed by a
connexin 32 mutant associated with X-linked Charcot-Marie-Tooth
disease.";
Proc. Natl. Acad. Sci. U.S.A. 99:3980-3984(2002).
[65]
VARIANT CMTX1 GLU-102 DEL.
PubMed=12707076; DOI=10.1001/archneur.60.4.605;
Hanemann C.O., Bergmann C., Senderek J., Zerres K., Sperfeld A.-D.;
"Transient, recurrent, white matter lesions in X-linked Charcot-Marie-
Tooth disease with novel connexin 32 mutation.";
Arch. Neurol. 60:605-609(2003).
[66]
VARIANTS CMTX1 LEU-26; ALA-55; HIS-57; ILE-63; LEU-69; MET-139;
GLN-142; TRP-142; ARG-172; ALA-177; HIS-183; ALA-191 AND TYR-201.
PubMed=12477701; DOI=10.1093/brain/awg012;
The study group for hereditary neuropathy in Japan;
Hattori N., Yamamoto M., Yoshihara T., Koike H., Nakagawa M.,
Yoshikawa H., Ohnishi A., Hayasaka K., Onodera O., Baba M., Yasuda H.,
Saito T., Nakashima K., Kira J., Kaji R., Oka N., Sobue G.;
"Demyelinating and axonal features of Charcot-Marie-Tooth disease with
mutations of myelin-related proteins (PMP22, MPZ and Cx32): a
clinicopathological study of 205 Japanese patients.";
Brain 126:134-151(2003).
[67]
VARIANTS CMTX1 7-TYR-THR-8 DELINS SER; ASN-138; GLN-164; ALA-172 AND
SER-205.
PubMed=12497641; DOI=10.1002/humu.9101;
Huehne K., Benes V., Thiel C., Kraus C., Kress W., Hoeltzenbein M.,
Ploner C.J., Kotzian J., Reis A., Rott H.D., Rautenstrauss B.W.;
"Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ,
and GJB1.";
Hum. Mutat. 21:100-100(2003).
[68]
VARIANTS CMTX1 GLY-102 AND ALA-181, AND CHARACTERIZATION OF VARIANTS
CMTX1 GLY-102 AND ALA-181.
PubMed=14627639;
Abrams C.K., Freidin M., Bukauskas F., Dobrenis K., Bargiello T.A.,
Verselis V.K., Bennett M.V.L., Chen L., Sahenk Z.;
"Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential
effects of two mutations in connexin 32.";
J. Neurosci. 23:10548-10558(2003).
[69]
VARIANTS CMTX1 ALA-136; GLN-164 AND ARG-168.
PubMed=15241803; DOI=10.1002/humu.9261;
Choi B.-O., Lee M.S., Shin S.H., Hwang J.H., Choi K.-G., Kim W.-K.,
Sunwoo I.N., Kim N.K., Chung K.W.;
"Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean
Charcot-Marie-Tooth neuropathy patients.";
Hum. Mutat. 24:185-186(2004).
[70]
ERRATUM.
Choi B.-O., Lee M.S., Shin S.H., Hwang J.H., Choi K.-G., Kim W.-K.,
Sunwoo I.N., Kim N.K., Chung K.W.;
Hum. Mutat. 24:350-350(2004).
[71]
VARIANT CMTX1 CYS-235, AND CHARACTERIZATION OF VARIANT CMTX1 CYS-235.
PubMed=15852376; DOI=10.1002/ana.20459;
Liang G.S.L., de Miguel M., Gomez-Hernandez J.M., Glass J.D.,
Scherer S.S., Mintz M., Barrio L.C., Fischbeck K.H.;
"Severe neuropathy with leaky connexin32 hemichannels.";
Ann. Neurol. 57:749-754(2005).
[72]
VARIANT CMTX1 SER-127.
PubMed=15468313; DOI=10.1002/mus.20166;
Vondracek P., Seeman P., Hermanova M., Fajkusova L.;
"X-linked Charcot-Marie-Tooth disease: phenotypic expression of a
novel mutation Ile127Ser in the GJB1 (connexin 32) gene.";
Muscle Nerve 31:252-255(2005).
[73]
VARIANT DSS ALA-136.
PubMed=15947997; DOI=10.1007/s10048-005-0217-4;
Chung K.W., Sunwoo I.N., Kim S.M., Park K.D., Kim W.-K., Kim T.S.,
Koo H., Cho M., Lee J., Choi B.O.;
"Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-
Marie-Tooth disease family.";
Neurogenetics 6:159-163(2005).
[74]
VARIANT CMTX1 GLU-124.
PubMed=27234031; DOI=10.1111/cge.12810;
Fattahi Z., Kalhor Z., Fadaee M., Vazehan R., Parsimehr E.,
Abolhassani A., Beheshtian M., Zamani G., Nafissi S., Nilipour Y.,
Akbari M.R., Kahrizi K., Kariminejad A., Najmabadi H.;
"Improved diagnostic yield of neuromuscular disorders applying
clinical exome sequencing in patients arising from a consanguineous
population.";
Clin. Genet. 91:386-402(2017).
-!- FUNCTION: One gap junction consists of a cluster of closely packed
pairs of transmembrane channels, the connexons, through which
materials of low MW diffuse from one cell to a neighboring cell.
-!- SUBUNIT: A connexon is composed of a hexamer of connexins.
Interacts with CNST (By similarity). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
Cell junction, gap junction.
-!- DISEASE: Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
[MIM:302800]: A form of Charcot-Marie-Tooth disease, a disorder of
the peripheral nervous system, characterized by progressive
weakness and atrophy, initially of the peroneal muscles and later
of the distal muscles of the arms. Charcot-Marie-Tooth disease is
classified in two main groups on the basis of electrophysiologic
properties and histopathology: primary peripheral demyelinating
neuropathies characterized by severely reduced motor nerve
conduction velocities (NCVs) (less than 38m/s) and segmental
demyelination and remyelination, and primary peripheral axonal
neuropathies characterized by normal or mildly reduced NCVs and
chronic axonal degeneration and regeneration on nerve biopsy.
CMTX1 has both demyelinating and axonal features. Central nervous
system involvement may occur. {ECO:0000269|PubMed:10071100,
ECO:0000269|PubMed:10220155, ECO:0000269|PubMed:10234007,
ECO:0000269|PubMed:10586284, ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:10873293,
ECO:0000269|PubMed:10894999, ECO:0000269|PubMed:10923043,
ECO:0000269|PubMed:10938190, ECO:0000269|PubMed:11030070,
ECO:0000269|PubMed:11140841, ECO:0000269|PubMed:11180613,
ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:11562788, ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:11723288, ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:11891346, ECO:0000269|PubMed:12185164,
ECO:0000269|PubMed:12207932, ECO:0000269|PubMed:12325071,
ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:12536289,
ECO:0000269|PubMed:12707076, ECO:0000269|PubMed:14627639,
ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:15468313,
ECO:0000269|PubMed:15852376, ECO:0000269|PubMed:27234031,
ECO:0000269|PubMed:7477983, ECO:0000269|PubMed:7833935,
ECO:0000269|PubMed:8004109, ECO:0000269|PubMed:8162049,
ECO:0000269|PubMed:8266101, ECO:0000269|PubMed:8628473,
ECO:0000269|PubMed:8698335, ECO:0000269|PubMed:8733054,
ECO:0000269|PubMed:8737658, ECO:0000269|PubMed:8807343,
ECO:0000269|PubMed:8829637, ECO:0000269|PubMed:8889588,
ECO:0000269|PubMed:8956046, ECO:0000269|PubMed:8990008,
ECO:0000269|PubMed:9018031, ECO:0000269|PubMed:9099841,
ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9272161,
ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9452025,
ECO:0000269|PubMed:9452099, ECO:0000269|PubMed:9469569,
ECO:0000269|PubMed:9633821, ECO:0000269|PubMed:9818870,
ECO:0000269|PubMed:9856562, ECO:0000269|Ref.12}. Note=The disease
is caused by mutations affecting the gene represented in this
entry.
-!- DISEASE: Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe
degenerating neuropathy of the demyelinating Charcot-Marie-Tooth
disease category, with onset by age 2 years. Characterized by
motor and sensory neuropathy with very slow nerve conduction
velocities, increased cerebrospinal fluid protein concentrations,
hypertrophic nerve changes, delayed age of walking as well as
areflexia. There are both autosomal dominant and autosomal
recessive forms of Dejerine-Sottas syndrome.
{ECO:0000269|PubMed:15947997}. Note=The gene represented in this
entry may act as a disease modifier.
-!- SIMILARITY: Belongs to the connexin family. Beta-type (group I)
subfamily. {ECO:0000305}.
-!- WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db;
URL="http://www.molgen.ua.ac.be/CMTMutations/";
-!- WEB RESOURCE: Name=Connexin-deafness homepage;
URL="http://davinci.crg.es/deafness/";
-----------------------------------------------------------------------
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EMBL; X04325; CAA27856.1; -; mRNA.
EMBL; AK313474; BAG36259.1; -; mRNA.
EMBL; BT019329; AAV38136.1; -; mRNA.
EMBL; CH471132; EAX05305.1; -; Genomic_DNA.
EMBL; CH471132; EAX05306.1; -; Genomic_DNA.
EMBL; BC002805; AAH02805.1; -; mRNA.
EMBL; BC022426; AAH22426.1; -; mRNA.
EMBL; BC039198; AAH39198.1; -; mRNA.
EMBL; L47127; AAA75086.1; -; Genomic_DNA.
CCDS; CCDS14408.1; -.
PIR; B29005; B29005.
RefSeq; NP_000157.1; NM_000166.5.
RefSeq; NP_001091111.1; NM_001097642.2.
RefSeq; XP_011529209.1; XM_011530907.2.
RefSeq; XP_016884897.1; XM_017029408.1.
UniGene; Hs.333303; -.
PDB; 1TXH; Model; -; A/B/C/D/E/F=19-209.
PDB; 5KK9; NMR; -; A=1-22.
PDBsum; 1TXH; -.
PDBsum; 5KK9; -.
ProteinModelPortal; P08034; -.
SMR; P08034; -.
BioGrid; 108971; 7.
STRING; 9606.ENSP00000354900; -.
TCDB; 1.A.24.1.3; the gap junction-forming connexin (connexin) family.
iPTMnet; P08034; -.
PhosphoSitePlus; P08034; -.
BioMuta; GJB1; -.
DMDM; 117688; -.
MaxQB; P08034; -.
PaxDb; P08034; -.
PeptideAtlas; P08034; -.
PRIDE; P08034; -.
DNASU; 2705; -.
Ensembl; ENST00000361726; ENSP00000354900; ENSG00000169562.
Ensembl; ENST00000374022; ENSP00000363134; ENSG00000169562.
Ensembl; ENST00000374029; ENSP00000363141; ENSG00000169562.
GeneID; 2705; -.
KEGG; hsa:2705; -.
UCSC; uc004dzf.4; human.
CTD; 2705; -.
DisGeNET; 2705; -.
EuPathDB; HostDB:ENSG00000169562.9; -.
GeneCards; GJB1; -.
GeneReviews; GJB1; -.
HGNC; HGNC:4283; GJB1.
HPA; CAB012994; -.
MalaCards; GJB1; -.
MIM; 145900; phenotype.
MIM; 302800; phenotype.
MIM; 304040; gene.
neXtProt; NX_P08034; -.
OpenTargets; ENSG00000169562; -.
Orphanet; 101075; X-linked Charcot-Marie-Tooth disease type 1.
Orphanet; 1175; X-linked progressive cerebellar ataxia.
PharmGKB; PA28694; -.
eggNOG; ENOG410IFM8; Eukaryota.
eggNOG; ENOG410Y7VN; LUCA.
GeneTree; ENSGT00900000140773; -.
HOGENOM; HOG000231127; -.
HOVERGEN; HBG009576; -.
InParanoid; P08034; -.
KO; K07620; -.
OMA; YLVVRAC; -.
OrthoDB; EOG091G0FKH; -.
PhylomeDB; P08034; -.
TreeFam; TF329606; -.
Reactome; R-HSA-190704; Oligomerization of connexins into connexons.
Reactome; R-HSA-190827; Transport of connexins along the secretory pathway.
Reactome; R-HSA-190861; Gap junction assembly.
SIGNOR; P08034; -.
GeneWiki; GJB1; -.
GenomeRNAi; 2705; -.
PRO; PR:P08034; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000169562; -.
CleanEx; HS_GJB1; -.
ExpressionAtlas; P08034; baseline and differential.
Genevisible; P08034; HS.
GO; GO:0005922; C:connexin complex; TAS:ProtInc.
GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0016328; C:lateral plasma membrane; IEA:Ensembl.
GO; GO:0005243; F:gap junction channel activity; TAS:Reactome.
GO; GO:0042803; F:protein homodimerization activity; IEA:Ensembl.
GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
GO; GO:1905867; P:epididymis development; IEA:Ensembl.
GO; GO:0016264; P:gap junction assembly; TAS:Reactome.
GO; GO:0007399; P:nervous system development; TAS:ProtInc.
GO; GO:0051259; P:protein oligomerization; IEA:Ensembl.
GO; GO:0015868; P:purine ribonucleotide transport; IEA:Ensembl.
GO; GO:0006810; P:transport; TAS:ProtInc.
InterPro; IPR000500; Connexin.
InterPro; IPR002267; Connexin32.
InterPro; IPR019570; Connexin_CCC.
InterPro; IPR017990; Connexin_CS.
InterPro; IPR013092; Connexin_N.
PANTHER; PTHR11984; PTHR11984; 1.
Pfam; PF00029; Connexin; 1.
PRINTS; PR00206; CONNEXIN.
PRINTS; PR01138; CONNEXINB1.
SMART; SM00037; CNX; 1.
SMART; SM01089; Connexin_CCC; 1.
PROSITE; PS00407; CONNEXINS_1; 1.
PROSITE; PS00408; CONNEXINS_2; 1.
1: Evidence at protein level;
3D-structure; Cell junction; Cell membrane;
Charcot-Marie-Tooth disease; Complete proteome;
Dejerine-Sottas syndrome; Disease mutation; Gap junction; Membrane;
Neurodegeneration; Neuropathy; Phosphoprotein; Reference proteome;
Transmembrane; Transmembrane helix.
CHAIN 1 283 Gap junction beta-1 protein.
/FTId=PRO_0000057849.
TOPO_DOM 1 22 Cytoplasmic.
{ECO:0000305|PubMed:2460334}.
TRANSMEM 23 45 Helical. {ECO:0000305}.
TOPO_DOM 46 75 Extracellular.
{ECO:0000305|PubMed:2460334}.
TRANSMEM 76 95 Helical. {ECO:0000305}.
TOPO_DOM 96 130 Cytoplasmic.
{ECO:0000305|PubMed:2460334}.
TRANSMEM 131 153 Helical. {ECO:0000305}.
TOPO_DOM 154 191 Extracellular.
{ECO:0000305|PubMed:2460334}.
TRANSMEM 192 214 Helical. {ECO:0000305}.
TOPO_DOM 215 283 Cytoplasmic.
{ECO:0000305|PubMed:2460334}.
MOD_RES 233 233 Phosphoserine.
{ECO:0000250|UniProtKB:P08033}.
MOD_RES 258 258 Phosphoserine.
{ECO:0000244|PubMed:24275569}.
MOD_RES 266 266 Phosphoserine.
{ECO:0000244|PubMed:24275569}.
MOD_RES 277 277 Phosphoserine.
{ECO:0000244|PubMed:24275569}.
VARIANT 3 3 W -> R (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002006.
VARIANT 3 3 W -> S (in CMTX1).
{ECO:0000269|PubMed:10873293,
ECO:0000269|PubMed:8737658,
ECO:0000269|PubMed:8956046,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002007.
VARIANT 7 8 YT -> S (in CMTX1).
{ECO:0000269|PubMed:12497641}.
/FTId=VAR_029894.
VARIANT 7 7 Y -> C (in CMTX1).
{ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:8807343,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002008.
VARIANT 8 8 T -> I (in CMTX1).
{ECO:0000269|PubMed:10938190}.
/FTId=VAR_029895.
VARIANT 8 8 T -> P (in CMTX1).
{ECO:0000269|PubMed:11438991}.
/FTId=VAR_002009.
VARIANT 9 9 L -> W (in CMTX1).
{ECO:0000269|PubMed:9818870}.
/FTId=VAR_029896.
VARIANT 11 11 S -> G (in CMTX1).
/FTId=VAR_002010.
VARIANT 12 12 G -> S (in CMTX1).
{ECO:0000269|PubMed:8266101,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002011.
VARIANT 13 13 V -> L (in CMTX1; dbSNP:rs104894820).
{ECO:0000269|PubMed:7477983,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002012.
VARIANT 13 13 V -> M (in CMTX1; dbSNP:rs104894820).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002013.
VARIANT 14 14 N -> K (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002014.
VARIANT 15 15 R -> Q (in CMTX1; dbSNP:rs863224974).
{ECO:0000269|PubMed:8162049,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002015.
VARIANT 15 15 R -> W (in CMTX1; moderate;
dbSNP:rs116840815).
{ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:9099841,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9452099}.
/FTId=VAR_002016.
VARIANT 16 16 H -> P (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002017.
VARIANT 20 21 IG -> NS (in CMTX1).
/FTId=VAR_029897.
VARIANT 20 20 I -> S (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002018.
VARIANT 21 21 G -> D (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002019.
VARIANT 22 22 R -> G (in CMTX1; non-functional
channel). {ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:8698335,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002020.
VARIANT 22 22 R -> P (in CMTX1).
{ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:8698335,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002021.
VARIANT 22 22 R -> Q (in CMTX1).
{ECO:0000269|PubMed:10586284,
ECO:0000269|PubMed:10873293,
ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:8737658,
ECO:0000269|PubMed:9272161,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9633821,
ECO:0000269|PubMed:9818870}.
/FTId=VAR_002022.
VARIANT 23 23 V -> A (in CMTX1).
{ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002023.
VARIANT 24 24 W -> C (in CMTX1).
{ECO:0000269|PubMed:12185164}.
/FTId=VAR_029898.
VARIANT 25 25 L -> F (in CMTX1).
{ECO:0000269|PubMed:8990008,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002024.
VARIANT 25 25 L -> P (in CMTX1).
{ECO:0000269|PubMed:11438991}.
/FTId=VAR_029899.
VARIANT 26 26 S -> L (in CMTX1; dbSNP:rs587777876).
{ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:8889588,
ECO:0000269|PubMed:8990008,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002025.
VARIANT 26 26 S -> W (in CMTX1; severe).
{ECO:0000269|PubMed:11437164}.
/FTId=VAR_029900.
VARIANT 28 28 I -> IIF (in CMTX1).
/FTId=VAR_002027.
VARIANT 28 28 I -> N (in CMTX1; dbSNP:rs768834663).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_029901.
VARIANT 28 28 I -> T (in CMTX1; dbSNP:rs768834663).
{ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9818870}.
/FTId=VAR_002026.
VARIANT 29 29 F -> L (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002028.
VARIANT 30 30 I -> N (in CMTX1; dbSNP:rs104894817).
{ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:7477983,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002029.
VARIANT 30 30 I -> T (in CMTX1).
{ECO:0000269|PubMed:9818870}.
/FTId=VAR_029902.
VARIANT 34 34 M -> I (in CMTX1; localized in the Golgi
apparatus but also forming rare small
junction-like plaques).
{ECO:0000269|PubMed:12460545}.
/FTId=VAR_029903.
VARIANT 34 34 M -> K (in CMTX1; localized to the
endoplasmic reticulum).
{ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:12460545}.
/FTId=VAR_029904.
VARIANT 34 34 M -> T (in CMTX1; functional channel;
localized in the Golgi apparatus without
reaching the cell membrane).
{ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:8829637,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9401007,
ECO:0000269|PubMed:9818870}.
/FTId=VAR_002030.
VARIANT 34 34 M -> V (in CMTX1; localized in the Golgi
apparatus but also forming rare small gap
junction-like plaques).
{ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9018031,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002031.
VARIANT 35 35 V -> M (in CMTX1; localized mainly on the
cell membrane forming gap junction-like
plaques). {ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9818870,
ECO:0000269|Ref.12}.
/FTId=VAR_002032.
VARIANT 37 37 V -> M (in CMTX1; localized in the Golgi
apparatus but also forming rare small gap
junction-like plaques).
{ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9856562}.
/FTId=VAR_029905.
VARIANT 38 38 V -> M (in CMTX1; localized in the Golgi
apparatus without reaching the cell
membrane; dbSNP:rs879254012).
{ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:7833935,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002033.
VARIANT 39 39 A -> P (in CMTX1).
/FTId=VAR_002034.
VARIANT 39 39 A -> V (in CMTX1; dbSNP:rs786204095).
{ECO:0000269|PubMed:10586284}.
/FTId=VAR_002035.
VARIANT 40 40 A -> T (in CMTX1).
{ECO:0000269|PubMed:12536289}.
/FTId=VAR_029906.
VARIANT 40 40 A -> V (in CMTX1; localized in the Golgi
apparatus without reaching the cell
membrane). {ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002036.
VARIANT 41 41 E -> K (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002037.
VARIANT 43 43 V -> M (in CMTX1).
{ECO:0000269|PubMed:10586284}.
/FTId=VAR_002038.
VARIANT 44 44 W -> L (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002039.
VARIANT 49 49 S -> P (in CMTX1; dbSNP:rs116840817).
{ECO:0000269|PubMed:12207932}.
/FTId=VAR_029907.
VARIANT 49 49 S -> Y (in CMTX1).
{ECO:0000269|PubMed:8628473,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002040.
VARIANT 50 50 S -> P (in CMTX1).
{ECO:0000269|PubMed:10732813}.
/FTId=VAR_002041.
VARIANT 53 53 C -> S (in CMTX1; suggests a failure to
incorporate the mutant protein in the
cell membrane).
{ECO:0000269|PubMed:8889588,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9469569}.
/FTId=VAR_002042.
VARIANT 55 55 T -> A (in CMTX1; dbSNP:rs863224613).
{ECO:0000269|PubMed:12477701}.
/FTId=VAR_029908.
VARIANT 55 55 T -> I (in CMTX1; dbSNP:rs104894824).
{ECO:0000269|PubMed:10220155,
ECO:0000269|PubMed:11723288}.
/FTId=VAR_008137.
VARIANT 55 55 T -> R (in CMTX1).
{ECO:0000269|PubMed:12185164}.
/FTId=VAR_029909.
VARIANT 56 56 L -> F (in CMTX1; functional channel).
{ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002043.
VARIANT 57 57 Q -> H (in CMTX1).
{ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:9856562}.
/FTId=VAR_029910.
VARIANT 58 58 P -> R (in CMTX1).
{ECO:0000269|PubMed:9633821}.
/FTId=VAR_002044.
VARIANT 59 59 G -> C (in CMTX1).
{ECO:0000269|PubMed:11438991}.
/FTId=VAR_002045.
VARIANT 59 59 G -> R (in CMTX1).
{ECO:0000269|PubMed:10894999}.
/FTId=VAR_029911.
VARIANT 60 60 C -> F (in CMTX1; moderate).
{ECO:0000269|PubMed:10586284,
ECO:0000269|PubMed:8162049,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9452099}.
/FTId=VAR_002046.
VARIANT 63 63 V -> I (in CMTX1; dbSNP:rs116840818).
{ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:8162049,
ECO:0000269|PubMed:9099841,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9633821}.
/FTId=VAR_002047.
VARIANT 64 64 C -> F (in CMTX1; moderate).
{ECO:0000269|PubMed:11437164}.
/FTId=VAR_029912.
VARIANT 64 64 C -> S (in CMTX1).
{ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002048.
VARIANT 65 65 Y -> C (in CMTX1; dbSNP:rs104894819).
{ECO:0000269|PubMed:7477983,
ECO:0000269|PubMed:9099841,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002049.
VARIANT 65 65 Y -> H (in CMTX1).
{ECO:0000269|PubMed:11562788}.
/FTId=VAR_012313.
VARIANT 66 66 Missing (in CMTX1).
/FTId=VAR_002050.
VARIANT 69 69 F -> L (in CMTX1).
{ECO:0000269|PubMed:10923043,
ECO:0000269|PubMed:12477701}.
/FTId=VAR_029913.
VARIANT 70 70 P -> A (in CMTX1; dbSNP:rs878853697).
{ECO:0000269|PubMed:10873293}.
/FTId=VAR_029914.
VARIANT 75 75 R -> P (in CMTX1; localized in the Golgi
apparatus without reaching the cell
membrane). {ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002051.
VARIANT 75 75 R -> Q (in CMTX1; localized in the Golgi
apparatus without reaching the cell
membrane; dbSNP:rs863224972).
{ECO:0000269|PubMed:12402337,
ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:8829637,
ECO:0000269|PubMed:9272161,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002052.
VARIANT 75 75 R -> W (in CMTX1; localized in the Golgi
apparatus without reaching the cell
membrane; dbSNP:rs116840819).
{ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:12402337,
ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9272161,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002053.
VARIANT 77 77 W -> S (in CMTX1; dbSNP:rs199570177).
{ECO:0000269|PubMed:10873293,
ECO:0000269|PubMed:8737658,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002054.
VARIANT 80 80 Q -> R (in CMTX1; dbSNP:rs879254097).
{ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:10873293,
ECO:0000269|PubMed:8737658,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002055.
VARIANT 81 81 L -> F (in CMTX1).
/FTId=VAR_002056.
VARIANT 83 83 L -> P (in CMTX1).
/FTId=VAR_002057.
VARIANT 84 84 V -> I (in CMTX1).
{ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:9401007}.
/FTId=VAR_002058.
VARIANT 85 85 S -> C (in CMTX1; mutant have a higher
open probability than hemichannels formed
of GJB1 wild-type; dbSNP:rs104894823).
{ECO:0000269|PubMed:11891346,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002059.
VARIANT 85 85 S -> F (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002060.
VARIANT 86 86 T -> A (in CMTX1; moderate).
{ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9452099}.
/FTId=VAR_002061.
VARIANT 86 86 T -> N (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002062.
VARIANT 86 86 T -> S (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002063.
VARIANT 87 87 P -> A (in CMTX1; dbSNP:rs587777877).
{ECO:0000269|PubMed:8990008,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002064.
VARIANT 87 87 P -> L (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002065.
VARIANT 87 87 P -> S (in CMTX1).
{ECO:0000269|PubMed:9099841,
ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002066.
VARIANT 89 89 L -> P (in CMTX1).
{ECO:0000269|PubMed:9099841,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002067.
VARIANT 90 90 L -> H (in CMTX1).
{ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:9018031,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002068.
VARIANT 90 90 L -> V (in CMTX1).
{ECO:0000269|PubMed:10737979}.
/FTId=VAR_029915.
VARIANT 91 91 V -> M (in CMTX1; dbSNP:rs756928158).
{ECO:0000269|PubMed:11140841,
ECO:0000269|PubMed:11571214}.
/FTId=VAR_029916.
VARIANT 93 93 M -> V (in CMTX1).
{ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002069.
VARIANT 94 94 H -> D (in CMTX1).
{ECO:0000269|PubMed:11571214}.
/FTId=VAR_029917.
VARIANT 94 94 H -> Q (in CMTX1; non-functional channel;
dbSNP:rs756000896).
{ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002070.
VARIANT 94 94 H -> Y (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002071.
VARIANT 95 95 V -> M (in CMTX1; non-functional channel;
dbSNP:rs104894821).
{ECO:0000269|PubMed:10873293,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:7477983,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9401007}.
/FTId=VAR_002072.
VARIANT 100 100 H -> Y (in CMTX1; mild/moderate).
{ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9452099}.
/FTId=VAR_002073.
VARIANT 102 102 E -> G (in CMTX1; mild phenotype;
increased sensitivity to acidification-
induced closure; dbSNP:rs779696968).
{ECO:0000269|PubMed:10873293,
ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:14627639,
ECO:0000269|PubMed:8004109,
ECO:0000269|PubMed:8737658,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002074.
VARIANT 102 102 Missing (in CMTX1).
{ECO:0000269|PubMed:12707076}.
/FTId=VAR_029918.
VARIANT 103 103 K -> E (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002075.
VARIANT 104 104 K -> T (in CMTX1).
{ECO:0000269|PubMed:10586284}.
/FTId=VAR_029919.
VARIANT 107 107 R -> W (in CMTX1; dbSNP:rs863224973).
{ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:8829637,
ECO:0000269|PubMed:9018031,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9401007,
ECO:0000269|PubMed:9818870}.
/FTId=VAR_002076.
VARIANT 108 108 L -> P (in CMTX1).
{ECO:0000269|PubMed:11835375}.
/FTId=VAR_029920.
VARIANT 111 116 Missing (in CMTX1). {ECO:0000269|Ref.12}.
/FTId=VAR_002077.
VARIANT 120 120 V -> E (in CMTX1).
{ECO:0000269|PubMed:10220155}.
/FTId=VAR_008138.
VARIANT 120 120 Missing (in CMTX1).
{ECO:0000269|PubMed:12402337}.
/FTId=VAR_029921.
VARIANT 124 124 K -> E (in CMTX1).
{ECO:0000269|PubMed:27234031}.
/FTId=VAR_076567.
VARIANT 124 124 K -> N (in CMTX1; dbSNP:rs876661119).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002078.
VARIANT 125 125 V -> D (in CMTX1).
{ECO:0000269|PubMed:12185164}.
/FTId=VAR_029922.
VARIANT 126 126 H -> Y (in CMTX1; dbSNP:rs879253995).
{ECO:0000269|PubMed:11030070}.
/FTId=VAR_029923.
VARIANT 127 127 I -> M (in CMTX1).
{ECO:0000269|PubMed:9818870}.
/FTId=VAR_029924.
VARIANT 127 127 I -> S (in CMTX1).
{ECO:0000269|PubMed:15468313}.
/FTId=VAR_029925.
VARIANT 128 128 S -> P (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002079.
VARIANT 130 130 T -> I (in CMTX1).
{ECO:0000269|PubMed:11571214}.
/FTId=VAR_029926.
VARIANT 131 131 L -> P (in CMTX1).
{ECO:0000269|PubMed:9818870}.
/FTId=VAR_029927.
VARIANT 133 133 W -> C (in CMTX1; moderate).
{ECO:0000269|PubMed:9452099}.
/FTId=VAR_002080.
VARIANT 133 133 W -> R (in CMTX1; dbSNP:rs104894813).
{ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:7477983,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9401007}.
/FTId=VAR_002081.
VARIANT 135 135 Y -> C (in CMTX1).
/FTId=VAR_002082.
VARIANT 136 136 V -> A (in CMTX1 and DSS; found in a DSS
patient with severe symptoms also
carrying W-359 in the EGR2 gene; may act
as a modifier of disease severity;
dbSNP:rs104894826).
{ECO:0000269|PubMed:15241803,
ECO:0000269|PubMed:15947997}.
/FTId=VAR_021611.
VARIANT 138 138 S -> N (in CMTX1).
{ECO:0000269|PubMed:12497641}.
/FTId=VAR_029928.
VARIANT 139 139 V -> M (in CMTX1; dbSNP:rs104894812).
{ECO:0000269|PubMed:10586284,
ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:12402337,
ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:8266101,
ECO:0000269|PubMed:9099841,
ECO:0000269|PubMed:9272161,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002083.
VARIANT 141 141 F -> L (in CMTX1).
{ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:9401007}.
/FTId=VAR_002084.
VARIANT 142 142 R -> E (in CMTX1; requires 2 nucleotide
substitutions).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002085.
VARIANT 142 142 R -> Q (in CMTX1; dbSNP:rs786204123).
{ECO:0000269|PubMed:10586284,
ECO:0000269|PubMed:10923043,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:12477701}.
/FTId=VAR_029929.
VARIANT 142 142 R -> W (in CMTX1; moderate;
dbSNP:rs104894810).
{ECO:0000269|PubMed:10586284,
ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:10873293,
ECO:0000269|PubMed:11437164,
ECO:0000269|PubMed:12325071,
ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:8004109,
ECO:0000269|PubMed:8266101,
ECO:0000269|PubMed:8737658,
ECO:0000269|PubMed:9018031,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002086.
VARIANT 143 143 Missing (in CMTX1).
{ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:8162049,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002087.
VARIANT 146 146 E -> K (in CMTX1).
{ECO:0000269|PubMed:12402337}.
/FTId=VAR_029930.
VARIANT 147 147 A -> D (in CMTX1).
{ECO:0000269|PubMed:12402337}.
/FTId=VAR_029931.
VARIANT 149 149 F -> I (in CMTX1).
/FTId=VAR_002088.
VARIANT 149 149 F -> V (in CMTX1; unknown pathological
significance).
{ECO:0000269|PubMed:10586284}.
/FTId=VAR_029932.
VARIANT 151 151 Y -> S (in CMTX1).
{ECO:0000269|PubMed:11438991}.
/FTId=VAR_029933.
VARIANT 153 153 F -> S (in CMTX1).
{ECO:0000269|PubMed:12185164}.
/FTId=VAR_029934.
VARIANT 156 156 L -> F (in CMTX1).
{ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:9018031,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002089.
VARIANT 156 156 L -> R (in CMTX1; dbSNP:rs104894818).
{ECO:0000269|PubMed:7477983,
ECO:0000269|PubMed:8266101,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002090.
VARIANT 157 157 Y -> C (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002091.
VARIANT 158 158 P -> A (in CMTX1).
{ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9401007,
ECO:0000269|PubMed:9818870,
ECO:0000269|Ref.12}.
/FTId=VAR_002092.
VARIANT 158 158 P -> R (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002093.
VARIANT 158 158 P -> S (in CMTX1).
/FTId=VAR_002094.
VARIANT 159 159 G -> D (in CMTX1).
{ECO:0000269|PubMed:11571214}.
/FTId=VAR_029935.
VARIANT 159 159 G -> S (in CMTX1).
{ECO:0000269|PubMed:10732813}.
/FTId=VAR_002095.
VARIANT 160 160 Y -> H (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002096.
VARIANT 161 161 A -> P (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002097.
VARIANT 164 164 R -> Q (in CMTX1).
{ECO:0000269|PubMed:10220155,
ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:10923043,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:12497641,
ECO:0000269|PubMed:15241803,
ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002098.
VARIANT 164 164 R -> W (in CMTX1; moderate;
dbSNP:rs139643362).
{ECO:0000269|PubMed:10873293,
ECO:0000269|PubMed:11437164,
ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:8733054,
ECO:0000269|PubMed:8737658,
ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002099.
VARIANT 168 168 C -> R (in CMTX1; demyelinating form).
{ECO:0000269|PubMed:15241803}.
/FTId=VAR_021612.
VARIANT 168 168 C -> Y (in CMTX1).
{ECO:0000269|PubMed:12325071}.
/FTId=VAR_029936.
VARIANT 172 172 P -> A (in CMTX1).
{ECO:0000269|PubMed:12497641}.
/FTId=VAR_029937.
VARIANT 172 172 P -> L (in CMTX1).
{ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9633821,
ECO:0000269|PubMed:9856562}.
/FTId=VAR_002100.
VARIANT 172 172 P -> R (in CMTX1; suggests a failure to
incorporate the mutant protein in the
cell membrane).
{ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:9469569}.
/FTId=VAR_029938.
VARIANT 172 172 P -> S (in CMTX1; dbSNP:rs104894811).
{ECO:0000269|PubMed:8266101,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002101.
VARIANT 173 173 C -> R (in CMTX1).
/FTId=VAR_002102.
VARIANT 175 175 N -> D (in CMTX1).
{ECO:0000269|PubMed:9633821}.
/FTId=VAR_002103.
VARIANT 177 177 V -> A (in CMTX1).
{ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:9856562}.
/FTId=VAR_029939.
VARIANT 177 177 V -> E (in CMTX1).
{ECO:0000269|PubMed:10586284}.
/FTId=VAR_029940.
VARIANT 178 178 D -> Y (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002104.
VARIANT 179 179 C -> R (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002105.
VARIANT 180 180 F -> L (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002106.
VARIANT 180 180 F -> S (in CMTX1).
{ECO:0000269|PubMed:10873293}.
/FTId=VAR_029941.
VARIANT 181 181 V -> A (in CMTX1; profoundly impaired in
their ability to support the earliest
stages of regeneration of myelinated
fibers). {ECO:0000269|PubMed:14627639}.
/FTId=VAR_029942.
VARIANT 181 181 V -> M (in CMTX1; dbSNP:rs879253909).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002107.
VARIANT 182 182 S -> T (in CMTX1).
{ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9818870,
ECO:0000269|Ref.12}.
/FTId=VAR_002108.
VARIANT 183 183 R -> C (in CMTX1; dbSNP:rs863224471).
{ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002109.
VARIANT 183 183 R -> H (in CMTX1).
{ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002110.
VARIANT 183 183 R -> S (in CMTX1).
{ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002111.
VARIANT 184 184 P -> L (in CMTX1).
{ECO:0000269|PubMed:11438991}.
/FTId=VAR_029943.
VARIANT 184 184 P -> R (in CMTX1).
{ECO:0000269|PubMed:10732813}.
/FTId=VAR_002112.
VARIANT 185 185 Missing (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002113.
VARIANT 186 186 E -> K (in CMTX1; non-functional channel;
dbSNP:rs116840821).
{ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:8266101,
ECO:0000269|PubMed:9018031,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002114.
VARIANT 187 187 K -> E (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002115.
VARIANT 189 189 V -> G (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002116.
VARIANT 189 189 V -> I (in CMTX1; dbSNP:rs770116247).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002117.
VARIANT 191 193 Missing (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002118.
VARIANT 191 191 T -> A (in CMTX1).
{ECO:0000269|PubMed:12477701}.
/FTId=VAR_029944.
VARIANT 192 192 V -> F (in CMTX1).
{ECO:0000269|PubMed:9818870}.
/FTId=VAR_029945.
VARIANT 193 193 F -> C (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002119.
VARIANT 193 193 F -> L (in CMTX1).
{ECO:0000269|PubMed:10737979}.
/FTId=VAR_029946.
VARIANT 194 194 M -> V (in CMTX1; dbSNP:rs587777878).
{ECO:0000269|PubMed:9272161}.
/FTId=VAR_002120.
VARIANT 198 198 S -> F (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_002121.
VARIANT 199 199 G -> R (in CMTX1).
{ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:9099841,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002122.
VARIANT 201 201 C -> R (in CMTX1; severe).
{ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9452025}.
/FTId=VAR_002123.
VARIANT 201 201 C -> Y (in CMTX1).
{ECO:0000269|PubMed:12477701}.
/FTId=VAR_029947.
VARIANT 203 203 I -> N (in CMTX1).
{ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:9401007}.
/FTId=VAR_002124.
VARIANT 204 204 L -> F (in CMTX1).
{ECO:0000269|PubMed:9633821}.
/FTId=VAR_002125.
VARIANT 204 204 L -> V (in CMTX1).
{ECO:0000269|PubMed:9361298}.
/FTId=VAR_029948.
VARIANT 205 205 N -> I (in CMTX1; localized to the
endoplasmic reticulum).
{ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:12460545}.
/FTId=VAR_029949.
VARIANT 205 205 N -> S (in CMTX1; mild;
dbSNP:rs104894822).
{ECO:0000269|PubMed:10071100,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:12497641,
ECO:0000269|PubMed:9361298,
ECO:0000269|PubMed:9401007,
ECO:0000269|PubMed:9452099}.
/FTId=VAR_002126.
VARIANT 208 208 E -> G (in CMTX1).
{ECO:0000269|PubMed:11180613}.
/FTId=VAR_029950.
VARIANT 208 208 E -> K (in CMTX1; non-detectable levels
of hemichannel activation and non-
detectable levels of electrical
coupling). {ECO:0000269|PubMed:10234007,
ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:8162049,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002127.
VARIANT 209 209 Missing (in CMTX1).
{ECO:0000269|PubMed:12402337}.
/FTId=VAR_029951.
VARIANT 211 211 Y -> H (in CMTX1).
{ECO:0000269|PubMed:11140841}.
/FTId=VAR_029952.
VARIANT 213 214 II -> L (in CMTX1).
{ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:9401007}.
/FTId=VAR_002128.
VARIANT 213 213 I -> V (in CMTX1; localized mainly on the
cell membrane forming gap junction-like
plaques; dbSNP:rs753503984).
{ECO:0000269|PubMed:12460545}.
/FTId=VAR_029953.
VARIANT 215 215 R -> Q (in CMTX1; non-detectable levels
of hemichannel activation and non-
detectable levels of electrical
coupling). {ECO:0000269|PubMed:10234007}.
/FTId=VAR_029954.
VARIANT 215 215 R -> W (in CMTX1; mild/moderate; non-
functional channel; dbSNP:rs879254099).
{ECO:0000269|PubMed:10234007,
ECO:0000269|PubMed:10732813,
ECO:0000269|PubMed:11437164,
ECO:0000269|PubMed:11571214,
ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:8162049,
ECO:0000269|PubMed:8698335,
ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002129.
VARIANT 219 219 R -> C (in CMTX1; localized mainly on the
cell membrane forming gap junction-like
plaques; dbSNP:rs144381053).
{ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002130.
VARIANT 219 219 R -> H (in CMTX1; localized mainly on the
cell membrane forming gap junction-like
plaques; dbSNP:rs199834862).
{ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002131.
VARIANT 220 220 R -> G (in CMTX1; localized mainly on the
cell membrane forming gap junction-like
plaques). {ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002132.
VARIANT 230 230 R -> C (in CMTX1; localized mainly on the
cell membrane forming gap junction-like
plaques; dbSNP:rs587781246).
{ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002133.
VARIANT 230 230 R -> L (in CMTX1; localized mainly on the
cell membrane forming gap junction-like
plaques). {ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002134.
VARIANT 235 235 F -> C (in CMTX1; the mutation causes
abnormal hemichannel opening with
excessive permeability of the plasma
membrane and decreased cell survival;
dbSNP:rs104894825).
{ECO:0000269|PubMed:15852376,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002135.
VARIANT 238 238 R -> H (in CMTX1; localized mainly on the
cell membrane forming gap junction-like
plaques; dbSNP:rs776206757).
{ECO:0000269|PubMed:10234007,
ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:8990008,
ECO:0000269|PubMed:9361298}.
/FTId=VAR_002136.
VARIANT 239 239 L -> I (in CMTX1; localized mainly on the
cell membrane forming gap junction-like
plaques). {ECO:0000269|PubMed:12460545,
ECO:0000269|PubMed:9818870}.
/FTId=VAR_029955.
VARIANT 264 264 R -> C (in CMTX1; dbSNP:rs587777879).
{ECO:0000269|PubMed:12402337}.
/FTId=VAR_029956.
VARIANT 280 280 C -> G (in CMTX1; forms channels
normally). {ECO:0000269|PubMed:10234007}.
/FTId=VAR_029957.
CONFLICT 16 17 HS -> IL (in Ref. 6; AAA75086).
{ECO:0000305}.
TURN 6 9 {ECO:0000244|PDB:5KK9}.
HELIX 10 12 {ECO:0000244|PDB:5KK9}.
SEQUENCE 283 AA; 32025 MW; 8222C4811D12451E CRC64;
MNWTGLYTLL SGVNRHSTAI GRVWLSVIFI FRIMVLVVAA ESVWGDEKSS FICNTLQPGC
NSVCYDQFFP ISHVRLWSLQ LILVSTPALL VAMHVAHQQH IEKKMLRLEG HGDPLHLEEV
KRHKVHISGT LWWTYVISVV FRLLFEAVFM YVFYLLYPGY AMVRLVKCDV YPCPNTVDCF
VSRPTEKTVF TVFMLAASGI CIILNVAEVV YLIIRACARR AQRRSNPPSR KGSGFGHRLS
PEYKQNEINK LLSEQDGSLK DILRRSPGTG AGLAEKSDRC SAC


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