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Myelin protein P0 (Myelin peripheral protein) (MPP) (Myelin protein zero)

 MYP0_HUMAN              Reviewed;         248 AA.
P25189; Q16072; Q5VTH4; Q92677; Q9BR67;
01-MAY-1992, integrated into UniProtKB/Swiss-Prot.
01-MAY-1992, sequence version 1.
22-NOV-2017, entry version 200.
RecName: Full=Myelin protein P0;
AltName: Full=Myelin peripheral protein;
Short=MPP;
AltName: Full=Myelin protein zero;
Flags: Precursor;
Name=MPZ;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Fetal spinal cord;
PubMed=1719967; DOI=10.1016/S0006-291X(05)81094-0;
Hayasaka K., Nanao K., Tahara M., Sato W., Takada G., Miura M.,
Uyemura K.;
"Isolation and sequence determination of cDNA encoding the major
structural protein of human peripheral myelin.";
Biochem. Biophys. Res. Commun. 180:515-518(1991).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND VARIANT
CMT1B HIS-98.
TISSUE=Spinal cord;
PubMed=7688964; DOI=10.1006/bbrc.1993.1968;
Hayasaka K., Ohnishi A., Takada G., Fukushima Y., Murai Y.;
"Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type
1.";
Biochem. Biophys. Res. Commun. 194:1317-1322(1993).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=7509228; DOI=10.1093/hmg/2.12.2051;
Pham-Dinh D., Fourbil Y., Blanquet F., Mattei M.-G., Roeckel N.,
Latour P., Chazot G., Vandenberghe A., Dautigny A.;
"The major peripheral myelin protein zero gene: structure and
localization in the cluster of Fc gamma receptor genes on human
chromosome 1q21.3-q23.";
Hum. Mol. Genet. 2:2051-2054(1993).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Pericardium;
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).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 (MAY-2003) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[7]
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.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=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).
[9]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-115 (ISOFORM 1), AND VARIANT CMT1B
SER-63 DEL.
PubMed=7693130; DOI=10.1038/ng0993-35;
Kulkens T., Bolhuis P.A., Wolterman R.A., Kemp S., Te Nijenhuis S.,
Valentijn L.J., Hensels G.W., Jennekens F.G., de Visser M.,
Hoogendijk J.E., Baas F.;
"Deletion of the serine 34 codon from the major peripheral myelin
protein P0 gene in Charcot-Marie-Tooth disease type 1B.";
Nat. Genet. 5:35-39(1993).
[10]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 24-248, AND VARIANT CMT1B
GLU-134.
PubMed=7530774; DOI=10.1136/jmg.31.10.811;
Nelis E., Timmerman V., De Jonghe P., Muylle L., Martin J.-J.,
Van Broeckhoven C.;
"Linkage and mutation analysis in an extended family with Charcot-
Marie-Tooth disease type 1B.";
J. Med. Genet. 31:811-815(1994).
[11]
PARTIAL PROTEIN SEQUENCE (ISOFORM L-MPZ), ALTERNATIVE SPLICING, AND
SUBCELLULAR LOCATION (ISOFORM L-MPZ).
TISSUE=PNS;
PubMed=22457349; DOI=10.1074/jbc.M111.314468;
Yamaguchi Y., Hayashi A., Campagnoni C.W., Kimura A., Inuzuka T.,
Baba H.;
"L-MPZ, a novel isoform of myelin P0, is produced by stop codon
readthrough.";
J. Biol. Chem. 287:17765-17776(2012).
[12]
REVIEW ON CMT1B VARIANTS.
PubMed=7762451;
Roa B.B., Lupski J.R.;
"Molecular genetics of Charcot-Marie-Tooth neuropathy.";
Adv. Hum. Genet. 22:117-152(1994).
[13]
REVIEW ON CMT1B VARIANTS.
PubMed=7518101; DOI=10.1016/0168-9525(94)90214-3;
Patel P.I., Lupski J.R.;
"Charcot-Marie-Tooth disease: a new paradigm for the mechanism of
inherited disease.";
Trends Genet. 10:128-133(1994).
[14]
REVIEW ON CMT1B AND DSS 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).
[15]
X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 30-150, SUBUNIT, AND
DISULFIDE BOND.
PubMed=21971831; DOI=10.1002/prot.23164;
Liu Z., Wang Y., Yedidi R.S., Brunzelle J.S., Kovari I.A., Sohi J.,
Kamholz J., Kovari L.C.;
"Crystal structure of the extracellular domain of human myelin protein
zero.";
Proteins 80:307-313(2012).
[16]
VARIANT CMT1B MET-30.
PubMed=7694726; DOI=10.1093/hmg/2.9.1369;
Hayasaka K., Takada G., Ionasescu V.V.;
"Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type
1B.";
Hum. Mol. Genet. 2:1369-1372(1993).
[17]
VARIANT CMT1B CYS-82.
PubMed=7505151;
Himoro M., Yoshikawa H., Matsui T., Mitsui Y., Takahashi M., Kaido M.,
Nishimura T., Sawaishi Y., Takada G., Hayasaka K.;
"New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-
Tooth neuropathy 1.";
Biochem. Mol. Biol. Int. 31:169-173(1993).
[18]
VARIANTS CMT1B GLU-90 AND GLU-96.
PubMed=7693129; DOI=10.1038/ng0993-31;
Hayasaka K., Himoro M., Sato W., Takada G., Uyemura K., Shimizu N.,
Bird T.D., Conneally P.M., Chance P.F.;
"Charcot-Marie-Tooth neuropathy type 1B is associated with mutations
of the myelin P0 gene.";
Nat. Genet. 5:31-34(1993).
[19]
VARIANTS CMT1B GLU-96 AND 216-THR DELINS GLU-ARG.
PubMed=7504284; DOI=10.1073/pnas.90.22.10856;
Su Y., Brooks D.G., Li L., Lepercq J., Trofatter J.A., Ravetch J.V.,
Lebo R.V.;
"Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B
patients.";
Proc. Natl. Acad. Sci. U.S.A. 90:10856-10860(1993).
[20]
VARIANTS DSS CYS-63 AND ARG-167.
PubMed=7506095; DOI=10.1038/ng1193-266;
Hayasaka K., Himoro M., Sawaishi Y., Nanao K., Takahashi T.,
Takada G., Nicholson G.A., Ouvrier R.A., Tachi N.;
"De novo mutation of the myelin P0 gene in Dejerine-Sottas disease
(hereditary motor and sensory neuropathy type III).";
Nat. Genet. 5:266-268(1993).
[21]
VARIANTS CMT1B LEU-78 AND ASN-134.
PubMed=7527371; DOI=10.1007/BF00206959;
Nelis E., Timmerman V., de Jonghe P., Vandenberghe A., Pham-Dinh D.,
Dautigny A., Martin J.-J., van Broeckhoven C.;
"Rapid screening of myelin genes in CMT1 patients by SSCP analysis:
identification of new mutations and polymorphisms in the P0 gene.";
Hum. Genet. 94:653-657(1994).
[22]
VARIANT CMT1B PHE-63.
PubMed=8835320;
Blanquet-Grossard F., Pham-Dinh D., Dautigny A., Latour P.,
Bonnebouche C., Corbillon E., Chazot G., Vandenberghe A.;
"Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63
codon in the major peripheral myelin glycoprotein PO gene.";
Clin. Genet. 48:281-283(1995).
[23]
VARIANTS CMT1B LEU-78 AND CYS-101.
PubMed=7550231; DOI=10.1002/humu.1380060110;
Latour P., Blanquet F., Nelis E., Bonnebouche C., Chapon F.,
Diraison P., Ollagnon E., Dautigny A., Pham-Dinh D., Chazot G.,
Boucherat M., van Broeckhoven C., Vandenberghe A.;
"Mutations in the myelin protein zero gene associated with Charcot-
Marie-Tooth disease type 1B.";
Hum. Mutat. 6:50-54(1995).
[24]
VARIANT DSS PHE-64 DEL.
PubMed=8630052; DOI=10.1006/bbrc.1996.0705;
Ikegami T., Nicholson G.A., Ikeda H., Ishida A., Johnston H., Wise G.,
Ouvrier R.A., Hayasaka K.;
"A novel homozygous mutation of the myelin Po gene producing Dejerine-
Sottas disease (hereditary motor and sensory neuropathy type III).";
Biochem. Biophys. Res. Commun. 222:107-110(1996).
[25]
VARIANTS CMT1B THR-135 AND SER-137.
PubMed=8664899;
DOI=10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N;
Roa B.B., Warner L.E., Garcia C.A., Russo D., Lovelace R.,
Chance P.F., Lupski J.R.;
"Myelin protein zero (MPZ) gene mutations in nonduplication type 1
Charcot-Marie-Tooth disease.";
Hum. Mutat. 7:36-45(1996).
[26]
VARIANT CMT1B SER-122.
PubMed=8844219;
DOI=10.1002/(SICI)1098-1004(1996)8:2<185::AID-HUMU13>3.0.CO;2-Z;
Blanquet-Grossard F., Pham-Dinh D., Dautigny A., Latour P.,
Bonnebouche C., Diraison P., Chapon F., Chazot G., Vandenberghe A.;
"Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single
glycosylation site in the major peripheral myelin glycoprotein Po.";
Hum. Mutat. 8:185-186(1996).
[27]
VARIANTS CMT1B/DSS ILE-34; CYS-98; HIS-98; ARG-130 AND LEU-135.
PubMed=8797476; DOI=10.1212/WNL.47.3.761;
Gabreeels-Festen A.A.W.M., Hoogendijk J.E., Meijerink P.H.,
Gabreeels F.J.M., Bolhuis P.A., van Beersum S., Kulkens T., Nelis E.,
Jennekens F.G., de Visser M., van Engelen B.G., van Broeckhoven C.,
Mariman E.C.;
"Two divergent types of nerve pathology in patients with different P0
mutations in Charcot-Marie-Tooth disease.";
Neurology 47:761-765(1996).
[28]
VARIANTS CMT1B CYS-98 AND SER-98, AND VARIANT DSS CYS-98.
PubMed=8816708; DOI=10.1016/S0896-6273(00)80177-4;
Warner L.E., Hilz M.J., Appel S.H., Killian J.M., Kolodry E.H.,
Karpati G., Carpenter S., Watters G.V., Wheeler C., Witt D.,
Bodell A., Nelis E., van Broeckhoven C., Lupski J.R.;
"Clinical phenotypes of different MPZ (P0) mutations may include
Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital
hypomyelination.";
Neuron 17:451-460(1996).
[29]
VARIANT CMT1B GLU-93.
PubMed=9217235;
DOI=10.1002/(SICI)1096-8628(19970808)71:2<246::AID-AJMG28>3.0.CO;2-D;
Ikegami T., Ikeda H., Mitsui T., Hayasaka K., Ishii S.;
"Novel mutation of the myelin Po gene in a pedigree with Charcot-
Marie-Tooth disease type 1B.";
Am. J. Med. Genet. 71:246-248(1997).
[30]
VARIANT CMT1B LEU-78, AND VARIANT DSS CYS-98.
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).
[31]
VARIANT CMT1B ARG-81.
PubMed=8990016;
DOI=10.1002/(SICI)1098-1004(1997)9:1<74::AID-HUMU16>3.3.CO;2-Q;
Sorour E., Macmillan J., Upadhyaya M.;
"Novel mutation of the myelin P0 gene in a CMT1B family.";
Hum. Mutat. 9:74-77(1997).
[32]
VARIANTS DSS THR-114; HIS-116 AND ASN-128.
PubMed=9222756;
DOI=10.1002/(SICI)1098-1004(1997)10:1<21::AID-HUMU3>3.0.CO;2-P;
Warner L.E., Shohat M., Shorer Z., Lupski J.R.;
"Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-
Sottas case.";
Hum. Mutat. 10:21-24(1997).
[33]
VARIANT DSS PHE-TYR-118 INS.
PubMed=9452055;
Ikegami T., Nicholson G.A., Ikeda H., Ishida A., Johnston H., Wise G.,
Ouvrier R.A., Hayasaka K.;
"De novo mutation of the myelin P0 gene in Dejerine-Sottas disease
(hereditary motor and sensory neuropathy type III): two amino acid
insertion after Asp 118.";
Hum. Mutat. Suppl. 1:S103-S105(1998).
[34]
VARIANT CMT1B MET-124, AND VARIANT DSS 124-THR-PHE-125 DEL.
PubMed=9452091;
Schiavon F., Rampazzo A., Merlini L., Angelini C., Mostacciuolo M.L.;
"Mutations of the same sequence of the myelin P0 gene causing two
different phenotypes.";
Hum. Mutat. Suppl. 1:S217-S219(1998).
[35]
VARIANTS CMT1B PHE-58; CYS-68; THR-112; LEU-132 AND ALA-167.
PubMed=9452099;
Sorour E., Upadhyaya M.;
"Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).";
Hum. Mutat. Suppl. 1:S242-S247(1998).
[36]
VARIANT CMT1B LEU-78, AND VARIANT DSS CYS-82.
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).
[37]
VARIANT CMT2I PHE-44.
PubMed=9595994; DOI=10.1212/WNL.50.5.1397;
Marrosu M.G., Vaccargiu S., Marrosu G., Vannelli A., Cianchetti C.,
Muntoni F.;
"Charcot-Marie-Tooth disease type 2 associated with mutation of the
myelin protein zero gene.";
Neurology 50:1397-1401(1998).
[38]
VARIANT ROULS LYS-131.
PubMed=10553995;
DOI=10.1002/1531-8249(199911)46:5<770::AID-ANA13>3.0.CO;2-U;
Plante-Bordeneuve V., Guiochon-Mantel A., Lacroix C., Lapresle J.,
Said G.;
"The Roussy-Levy family: from the original description to the gene.";
Ann. Neurol. 46:770-773(1999).
[39]
VARIANT CMT2J MET-124.
PubMed=10071056; DOI=10.1093/brain/122.2.281;
De Jonghe P., Timmerman V., Ceuterick C., Nelis E., De Vriendt E.,
Lofgren A., Vercruyssen A., Verellen C., Van Maldergem L.,
Martin J.-J., Van Broeckhoven C.;
"The Thr124Met mutation in the peripheral myelin protein zero (MPZ)
gene is associated with a clinically distinct Charcot-Marie-Tooth
phenotype.";
Brain 122:281-290(1999).
[40]
VARIANT CMT1B PRO-54.
Bissar-Tadmouri N., Latour P., Gulsen-Parman Y., Deymeer F.,
Serdaroglu P., Ozdemir C., Vandenberghe A.;
"Novel mutations of the myelin P0 gene in two Charcot-Marie-Tooth type
1 patients from Turkey.";
Eur. J. Hum. Genet. Suppl. 7:116-116(1999).
[41]
VARIANT CMT2 MET-124.
PubMed=10329755; DOI=10.1136/jnnp.66.6.779;
Chapon F., Latour P., Diraison P., Schaeffer S., Vandenberghe A.;
"Axonal phenotype of Charcot-Marie-Tooth disease associated with a
mutation in the myelin protein zero gene.";
J. Neurol. Neurosurg. Psych. 66:779-782(1999).
[42]
VARIANT CMTDID TYR-35.
PubMed=10406984; DOI=10.1136/jnnp.67.2.174;
Mastaglia F.L., Nowak K.J., Stell R., Phillips B.A., Edmondston J.E.,
Dorosz S.M., Wilton S.D., Hallmayer J., Kakulas B.A., Laing N.G.;
"Novel mutation in the myelin protein zero gene in a family with
intermediate hereditary motor and sensory neuropathy.";
J. Neurol. Neurosurg. Psych. 67:174-179(1999).
[43]
VARIANT CMT1B PHE-62.
PubMed=10214757; DOI=10.1212/WNL.52.6.1271;
Nakagawa M., Suehara M., Saito A., Takashima H., Umehara F., Saito M.,
Kanzato N., Matsuzaki T., Takenaga S., Sakoda S., Izumo S., Osame M.;
"A novel MPZ gene mutation in dominantly inherited neuropathy with
focally folded myelin sheaths.";
Neurology 52:1271-1275(1999).
[44]
VARIANT CMT1B ASN-109, AND FUNCTION.
PubMed=10545037; DOI=10.1016/S0960-8966(99)00031-0;
Lagueny A., Latour P., Vital A., Rajabally Y., Le Masson G.,
Ferrer X., Bernard I., Julien J., Vital C., Vandenberghe A.;
"Peripheral myelin modification in CMT1B correlates with MPZ gene
mutations.";
Neuromuscul. Disord. 9:361-367(1999).
[45]
VARIANT CMT1B LEU-78.
PubMed=10965800; DOI=10.1007/s004019900175;
Fabrizi G.M., Taioli F., Cavallaro T., Rigatelli F., Simonati A.,
Mariani G., Perrone P., Rizzuto N.;
"Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with
Ser49Leu in the myelin protein zero.";
Acta Neuropathol. 100:299-304(2000).
[46]
VARIANTS CMT2 GLY-61 AND CYS-119.
PubMed=10764043;
Senderek J., Hermanns B., Lehmann U., Bergmann C., Marx G., Kabus C.,
Timmerman V., Stoltenburg-Didinger G., Schroder J.M.;
"Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two
novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible
'hotspot' on Thr124Met.";
Brain Pathol. 10:235-248(2000).
[47]
VARIANTS CMT1B HIS-98; GLY-134; GLU-134; THR-135; ASN-138 AND ASN-139.
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]
VARIANTS CMT PHE-32; CYS-68; MET-124 AND ARG-130.
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).
[49]
VARIANTS CMT2J VAL-75 AND MET-124.
PubMed=11080237; DOI=10.1136/jnnp.69.6.806;
Misu K., Yoshihara T., Shikama Y., Awaki E., Yamamoto M., Hattori N.,
Hirayama M., Takegami T., Nakashima K., Sobue G.;
"An axonal form of Charcot-Marie-Tooth disease showing distinctive
features in association with mutations in the peripheral myelin
protein zero gene (Thr124Met or Asp75Val).";
J. Neurol. Neurosurg. Psych. 69:806-811(2000).
[50]
VARIANTS CMT1B PHE-63 AND MET-124, AND VARIANTS DSS CYS-98 AND
124-THR-PHE-125 DEL.
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).
[51]
VARIANTS CMT1B PHE-51; LEU-78 AND HIS-98.
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).
[52]
VARIANTS DSS VAL-42 DEL AND THR-221.
PubMed=11596785; DOI=10.1007/s004150170096;
Plante-Bordeneuve V., Parman Y., Guiochon-Mantel A., Alj Y.,
Deymeer F., Serdaroglu P., Eraksoy M., Said G.;
"The range of chronic demyelinating neuropathy of infancy: a clinico-
pathological and genetic study of 15 unrelated cases.";
J. Neurol. 248:795-803(2001).
[53]
VARIANT CMT1B GLU-103.
PubMed=11445635; DOI=10.1212/WNL.57.1.101;
Fabrizi G.M., Ferrarini M., Cavallaro T., Jarre L., Polo A.,
Rizzuto N.;
"A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive
inheritance of CMT1B.";
Neurology 57:101-105(2001).
[54]
VARIANTS CMT1B LEU-78 AND CYS-82, VARIANTS CMT2I ASN-89; MET-92 AND
MET-162, AND VARIANTS DSS CYS-123 AND GLU-136.
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).
[55]
VARIANTS CMT1B SER-63 DEL; ILE-65; CYS-68; CYS-82; MET-124; ARG-163
AND ARG-170, AND VARIANTS CMT2 VAL-75 AND ILE-113.
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).
[56]
VARIANT CMT1B HIS-98.
PubMed=12221176; DOI=10.1212/WNL.59.5.767;
Watanabe M., Yamamoto N., Ohkoshi N., Nagata H., Kohno Y., Hayashi A.,
Tamaoka A., Shoji S.;
"Corticosteroid-responsive asymmetric neuropathy with a myelin protein
zero gene mutation.";
Neurology 59:767-769(2002).
[57]
VARIANTS CMT TYR-81 AND PHE-113.
PubMed=11801400; DOI=10.1016/S0960-8966(01)00281-4;
Bienfait H.M.E., Baas F., Gabreeels-Festen A.A.W.M., Koelman J.H.T.M.,
Langerhorst C.T., de Visser M.;
"Two amino-acid substitutions in the myelin protein zero gene of a
case of Charcot-Marie-Tooth disease associated with light-near
dissociation.";
Neuromuscul. Disord. 12:281-285(2002).
[58]
VARIANTS CMT1B THR-140; ARG-163 AND LYS-236 DEL.
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).
[59]
VARIANTS CMT1B TYR-35; PHE-62; SER-63 DEL; CYS-68; GLU-93; CYS-98 AND
PHE-146, AND VARIANTS CMT2I VAL-75; ARG-81; MET-124; ARG-130 AND
ARG-167.
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).
[60]
VARIANT CMT1B LEU-78, AND VARIANT DSS ASP-110.
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).
[61]
VARIANT CMT1B TRP-78.
PubMed=12707985; DOI=10.1002/mus.10344;
Kakar R., Ma W., Dutra A., Seltzer W.K., Grewal R.P.;
"Clinical and genetic analysis of CMT1B in a Nigerian family.";
Muscle Nerve 27:628-630(2003).
[62]
VARIANT CMT1B SER-145.
PubMed=12845552; DOI=10.1007/s10048-003-0153-0;
Leal A., Berghoff C., Berghoff M., Del Valle G., Contreras C.,
Montoya O., Hernandez E., Barrantes R., Schloetzer-Schrehardt U.,
Neundoerfer B., Reis A., Rautenstrauss B., Heuss D.;
"Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin
protein zero (MPZ, P0) gene causes different phenotypes in homozygous
and heterozygous carriers within one family.";
Neurogenetics 4:191-197(2003).
[63]
VARIANTS CMT2I HIS-60 AND MET-62.
PubMed=14638973; DOI=10.1212/01.WNL.0000094197.46109.75;
Auer-Grumbach M., Strasser-Fuchs S., Robl T., Windpassinger C.,
Wagner K.;
"Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel
mutations in the MPZ gene.";
Neurology 61:1435-1437(2003).
[64]
VARIANTS CMT1B PRO-39; PHE-44; CYS-50 DEL; HIS-98; CYS-123; ARG-130;
THR-140 AND SER-227.
PubMed=14711881; DOI=10.1093/brain/awh048;
Shy M.E., Jani A., Krajewski K., Grandis M., Lewis R.A., Li J.,
Shy R.R., Balsamo J., Lilien J., Garbern J.Y., Kamholz J.;
"Phenotypic clustering in MPZ mutations.";
Brain 127:371-384(2004).
[65]
VARIANT CMT2 LYS-56.
PubMed=14871447; DOI=10.1111/j.1085-9489.2004.09101.x;
Kochanski A., Kabzinska D., Nowakowski A., Drac H.,
Hausmanowa-Petrusewicz I.;
"An axonal form of Charcot-Marie-Tooth disease with a novel missense
mutation in the myelin protein zero gene.";
J. Peripher. Nerv. Syst. 9:1-2(2004).
[66]
VARIANTS CMT2I ASN-118 AND GLU-236.
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).
[67]
VARIANT CHN LYS-124.
PubMed=15184631; DOI=10.1212/01.WNL.0000127606.93772.3A;
Kochanski A., Drac H., Kabzinska D., Ryniewicz B.,
Rowinska-Marcinska K., Nowakowski A., Hausmanowa-Petrusewicz I.;
"A novel MPZ gene mutation in congenital neuropathy with
hypomyelination.";
Neurology 62:2122-2123(2004).
[68]
VARIANT CMT2J VAL-97.
PubMed=15326256; DOI=10.1212/01.WNL.0000134605.61307.DE;
Seeman P., Mazanec R., Huehne K., Suslikova P., Keller O.,
Rautenstrauss B.;
"Hearing loss as the first feature of late-onset axonal CMT disease
due to a novel P0 mutation.";
Neurology 63:733-735(2004).
[69]
VARIANT CMT1B TYR-224.
PubMed=16488608; DOI=10.1016/j.nmd.2006.01.006;
Fabrizi G.M., Pellegrini M., Angiari C., Cavallaro T., Morini A.,
Taioli F., Cabrini I., Orrico D., Rizzuto N.;
"Gene dosage sensitivity of a novel mutation in the intracellular
domain of P0 associated with Charcot-Marie-Tooth disease type 1B.";
Neuromuscul. Disord. 16:183-187(2006).
[70]
CHARACTERIZATION OF VARIANTS CMT1B 51-SER--TRP-57 DEL; PRO-39; ARG-81
AND MET-124, FUNCTION, AND SUBCELLULAR LOCATION.
PubMed=18337304; DOI=10.1093/hmg/ddn083;
Grandis M., Vigo T., Passalacqua M., Jain M., Scazzola S.,
La Padula V., Brucal M., Benvenuto F., Nobbio L., Cadoni A.,
Mancardi G.L., Kamholz J., Shy M.E., Schenone A.;
"Different cellular and molecular mechanisms for early and late-onset
myelin protein zero mutations.";
Hum. Mol. Genet. 17:1877-1889(2008).
[71]
VARIANT CMT2 MET-124.
PubMed=15159512; DOI=10.1212/01.WNL.0000125287.98456.23;
Baloh R.H., Jen J.C., Kim G., Baloh R.W.;
"Chronic cough due to Thr124Met mutation in the peripheral myelin
protein zero (MPZ gene).";
Neurology 62:1905-1906(2004).
[72]
VARIANT CMT1B ALA-65.
PubMed=15036333; DOI=10.1016/j.nmd.2003.12.001;
Kochanski A., Drac H., Kabzinska D., Hausmanowa-Petrusewicz I.;
"A novel mutation, Thr65Ala, in the MPZ gene in a patient with
Charcot-Marie-Tooth type 1B disease with focally folded myelin.";
Neuromuscul. Disord. 14:229-232(2004).
[73]
VARIANT CMT2J MET-124, AND INVOLVEMENT IN ADIE PUPIL.
PubMed=16775239; DOI=10.1056/NEJMcpc069009;
Triggs W.J., Brown R.H. Jr., Menkes D.L.;
"Case records of the Massachusetts General Hospital. Case 18-2006. A
57-year-old woman with numbness and weakness of the feet and legs.";
N. Engl. J. Med. 354:2584-2592(2006).
-!- FUNCTION: Is an adhesion molecule necessary for normal myelination
in the peripheral nervous system. It mediates adhesion between
adjacent myelin wraps and ultimately drives myelin compaction.
{ECO:0000269|PubMed:10545037, ECO:0000269|PubMed:18337304}.
-!- SUBUNIT: Homodimer and homotetramer.
{ECO:0000305|PubMed:21971831}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18337304};
Single-pass type I membrane protein.
-!- SUBCELLULAR LOCATION: Isoform L-MPZ: Myelin membrane
{ECO:0000269|PubMed:22457349}; Single-pass type I membrane protein
{ECO:0000269|PubMed:22457349}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P25189-1; Sequence=Displayed;
Name=L-MPZ;
IsoId=P25189-2; Sequence=VSP_045844;
Note=Based on a naturally occurring readthrough transcript.
Highly antigenic.;
-!- TISSUE SPECIFICITY: Found only in peripheral nervous system
Schwann cells.
-!- PTM: N-glycosylated; contains sulfate-substituted glycan.
{ECO:0000250}.
-!- DISEASE: Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]: A
dominant demyelinating 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 (designated CMT1 when they
are dominantly inherited) and primary peripheral axonal
neuropathies (CMT2). Demyelinating neuropathies are characterized
by severely reduced nerve conduction velocities (less than 38
m/sec), segmental demyelination and remyelination with onion bulb
formations on nerve biopsy, slowly progressive distal muscle
atrophy and weakness, absent deep tendon reflexes, and hollow
feet. {ECO:0000269|PubMed:10214757, ECO:0000269|PubMed:10545037,
ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:10965800,
ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:11445635, ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:12207932, ECO:0000269|PubMed:12221176,
ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:12707985,
ECO:0000269|PubMed:12845552, ECO:0000269|PubMed:14711881,
ECO:0000269|PubMed:15036333, ECO:0000269|PubMed:16488608,
ECO:0000269|PubMed:18337304, ECO:0000269|PubMed:7504284,
ECO:0000269|PubMed:7505151, ECO:0000269|PubMed:7527371,
ECO:0000269|PubMed:7530774, ECO:0000269|PubMed:7550231,
ECO:0000269|PubMed:7688964, ECO:0000269|PubMed:7693129,
ECO:0000269|PubMed:7693130, ECO:0000269|PubMed:7694726,
ECO:0000269|PubMed:8664899, ECO:0000269|PubMed:8797476,
ECO:0000269|PubMed:8816708, ECO:0000269|PubMed:8835320,
ECO:0000269|PubMed:8844219, ECO:0000269|PubMed:8990016,
ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9217235,
ECO:0000269|PubMed:9452091, ECO:0000269|PubMed:9452099,
ECO:0000269|PubMed:9633821, ECO:0000269|Ref.40}. Note=The disease
is caused by mutations affecting the gene represented in this
entry.
-!- DISEASE: Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]: A
dominant axonal 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 (designated CMT1 when they are dominantly inherited)
and primary peripheral axonal neuropathies (CMT2). Neuropathies of
the CMT2 group are characterized by signs of axonal degeneration
in the absence of obvious myelin alterations, normal or slightly
reduced nerve conduction velocities, and progressive distal muscle
weakness and atrophy. Nerve conduction velocities are normal or
slightly reduced. {ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:14638973,
ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:9595994}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]: A
dominant axonal 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 (designated CMT1 when they are dominantly inherited)
and primary peripheral axonal neuropathies (CMT2). Neuropathies of
the CMT2 group are characterized by signs of axonal degeneration
in the absence of obvious myelin alterations, normal or slightly
reduced nerve conduction velocities, and progressive distal muscle
weakness and atrophy. Nerve conduction velocities are normal or
slightly reduced. Charcot-Marie-Tooth disease type 2J is
characterized by the association of axonal peripheral neuropathy
with hearing loss and pupillary abnormalities such as Adie pupil.
{ECO:0000269|PubMed:10071056, ECO:0000269|PubMed:11080237,
ECO:0000269|PubMed:15326256, ECO:0000269|PubMed:16775239}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Adie pupil (ADIEP) [MIM:103100]: A stationary, benign
disorder characterized by tonic, sluggishly reacting pupil and
hypoactive or absent tendon reflexes. Adie pupil is a
characteristic of Charcot-Marie-Tooth disease type 2J.
{ECO:0000269|PubMed:16775239}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Charcot-Marie-Tooth disease, dominant, intermediate type,
D (CMTDID) [MIM:607791]: 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. The dominant
intermediate type D is characterized by clinical and pathologic
features intermediate between demyelinating and axonal peripheral
neuropathies, and motor median nerve conduction velocities ranging
from 25 to 45 m/sec. {ECO:0000269|PubMed:10406984}. Note=The
disease may be 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:11438991, ECO:0000269|PubMed:11596785,
ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:12497641,
ECO:0000269|PubMed:7506095, ECO:0000269|PubMed:8630052,
ECO:0000269|PubMed:8816708, ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9222756, ECO:0000269|PubMed:9452055,
ECO:0000269|PubMed:9452091, ECO:0000269|PubMed:9633821}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Neuropathy, congenital hypomyelinating or amyelinating
(CHN) [MIM:605253]: A severe degenerating neuropathy that results
from a congenital impairment in myelin formation. It is clinically
characterized by early onset of hypotonia, areflexia, distal
muscle weakness, and very slow nerve conduction velocities (as low
as 3m/s). Some patients manifest nearly complete absence of
spontaneous limb movements, respiratory distress at birth, and
complete absence of myelin shown by electron microscopy of
peripheral nerves. Inheritance can be autosomal dominant or
recessive. {ECO:0000269|PubMed:15184631}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- DISEASE: Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal
dominant disorder that resembles Charcot-Marie-Tooth disease type
1 in that it presents with foot deformity, weakness and atrophy of
distal limb muscles, especially the peronei, and absent tendon
reflexes. The phenotype differs, however, in that it includes
static tremor of the upper limbs and gait ataxia.
{ECO:0000269|PubMed:10553995}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the myelin P0 protein family.
{ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH06491.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=AAP35411.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=BAA03540.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=BAG36330.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=CAH70270.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=EAW52606.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-!- WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db;
URL="http://www.molgen.ua.ac.be/CMTMutations/";
-----------------------------------------------------------------------
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EMBL; D10537; BAA01395.1; -; mRNA.
EMBL; D14720; BAA03540.1; ALT_INIT; Genomic_DNA.
EMBL; L24893; AAA20656.1; -; Genomic_DNA.
EMBL; L24894; AAA20656.1; JOINED; Genomic_DNA.
EMBL; AK313555; BAG36330.1; ALT_INIT; mRNA.
EMBL; BT006765; AAP35411.1; ALT_INIT; mRNA.
EMBL; AL592295; CAH70270.1; ALT_INIT; Genomic_DNA.
EMBL; CH471121; EAW52606.1; ALT_INIT; Genomic_DNA.
EMBL; BC006491; AAH06491.1; ALT_INIT; mRNA.
EMBL; S66705; AAB28708.1; -; mRNA.
EMBL; U10018; AAA18981.1; -; Genomic_DNA.
EMBL; U10017; AAA18981.1; JOINED; Genomic_DNA.
CCDS; CCDS1229.2; -. [P25189-1]
PIR; JH0252; JH0252.
RefSeq; NP_000521.2; NM_000530.7. [P25189-1]
RefSeq; NP_001302420.1; NM_001315491.1.
UniGene; Hs.591486; -.
PDB; 1N2P; Model; -; A=1-248.
PDB; 3OAI; X-ray; 2.10 A; A/B=30-150.
PDBsum; 1N2P; -.
PDBsum; 3OAI; -.
ProteinModelPortal; P25189; -.
SMR; P25189; -.
BioGrid; 110499; 2.
IntAct; P25189; 3.
MINT; MINT-1390651; -.
STRING; 9606.ENSP00000431538; -.
iPTMnet; P25189; -.
PhosphoSitePlus; P25189; -.
BioMuta; MPZ; -.
DMDM; 127721; -.
MaxQB; P25189; -.
PaxDb; P25189; -.
PeptideAtlas; P25189; -.
PRIDE; P25189; -.
DNASU; 4359; -.
Ensembl; ENST00000463290; ENSP00000431538; ENSG00000158887. [P25189-1]
Ensembl; ENST00000533357; ENSP00000432943; ENSG00000158887. [P25189-1]
GeneID; 4359; -.
KEGG; hsa:4359; -.
UCSC; uc001gaf.4; human. [P25189-1]
CTD; 4359; -.
DisGeNET; 4359; -.
EuPathDB; HostDB:ENSG00000158887.15; -.
GeneCards; MPZ; -.
GeneReviews; MPZ; -.
HGNC; HGNC:7225; MPZ.
MalaCards; MPZ; -.
MIM; 103100; phenotype.
MIM; 118200; phenotype.
MIM; 145900; phenotype.
MIM; 159440; gene.
MIM; 180800; phenotype.
MIM; 605253; phenotype.
MIM; 607677; phenotype.
MIM; 607736; phenotype.
MIM; 607791; phenotype.
neXtProt; NX_P25189; -.
OpenTargets; ENSG00000158887; -.
Orphanet; 99942; Autosomal dominant Charcot-Marie-Tooth disease type 2I.
Orphanet; 99943; Autosomal dominant Charcot-Marie-Tooth disease type 2J.
Orphanet; 100046; Autosomal dominant intermediate Charcot-Marie-Tooth disease type D.
Orphanet; 324585; Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain.
Orphanet; 101082; Charcot-Marie-Tooth disease type 1B.
Orphanet; 64748; Dejerine-Sottas syndrome.
Orphanet; 3115; Roussy-Levy syndrome.
PharmGKB; PA30930; -.
eggNOG; ENOG410IJG4; Eukaryota.
eggNOG; ENOG4111R0Y; LUCA.
GeneTree; ENSGT00900000140913; -.
HOGENOM; HOG000232144; -.
HOVERGEN; HBG096384; -.
InParanoid; P25189; -.
KO; K06770; -.
OMA; ERIQWVG; -.
OrthoDB; EOG091G0H91; -.
PhylomeDB; P25189; -.
TreeFam; TF331728; -.
SIGNOR; P25189; -.
GeneWiki; Myelin_protein_zero; -.
GenomeRNAi; 4359; -.
PRO; PR:P25189; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000158887; -.
CleanEx; HS_MPZ; -.
ExpressionAtlas; P25189; baseline and differential.
Genevisible; P25189; HS.
GO; GO:0016323; C:basolateral plasma membrane; IEA:Ensembl.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0005764; C:lysosome; IEA:Ensembl.
GO; GO:0043209; C:myelin sheath; IEA:UniProtKB-SubCell.
GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
GO; GO:0005791; C:rough endoplasmic reticulum; IEA:Ensembl.
GO; GO:0005198; F:structural molecule activity; NAS:ProtInc.
GO; GO:0098743; P:cell aggregation; IMP:UniProtKB.
GO; GO:0098742; P:cell-cell adhesion via plasma-membrane adhesion molecules; IMP:UniProtKB.
GO; GO:0007268; P:chemical synaptic transmission; TAS:ProtInc.
GO; GO:0042552; P:myelination; IMP:UniProtKB.
GO; GO:0043066; P:negative regulation of apoptotic process; IEA:Ensembl.
Gene3D; 2.60.40.10; -; 1.
InterPro; IPR007110; Ig-like_dom.
InterPro; IPR036179; Ig-like_dom_sf.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR003599; Ig_sub.
InterPro; IPR013106; Ig_V-set.
InterPro; IPR019566; Myelin-PO_C.
InterPro; IPR000920; Myelin_P0-rel.
InterPro; IPR019738; Myelin_P0_CS.
InterPro; IPR029869; P0.
PANTHER; PTHR13869; PTHR13869; 1.
PANTHER; PTHR13869:SF7; PTHR13869:SF7; 1.
Pfam; PF10570; Myelin-PO_C; 1.
Pfam; PF07686; V-set; 1.
PRINTS; PR00213; MYELINP0.
SMART; SM00409; IG; 1.
SMART; SM00406; IGv; 1.
SUPFAM; SSF48726; SSF48726; 1.
PROSITE; PS50835; IG_LIKE; 1.
PROSITE; PS00568; MYELIN_P0; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane;
Charcot-Marie-Tooth disease; Complete proteome; Deafness;
Dejerine-Sottas syndrome; Direct protein sequencing; Disease mutation;
Disulfide bond; Glycoprotein; Immunoglobulin domain; Membrane;
Neurodegeneration; Neuropathy; Phosphoprotein; Polymorphism;
Reference proteome; Signal; Transmembrane; Transmembrane helix.
SIGNAL 1 29
CHAIN 30 248 Myelin protein P0.
/FTId=PRO_0000019300.
TOPO_DOM 30 153 Extracellular. {ECO:0000255}.
TRANSMEM 154 179 Helical. {ECO:0000255}.
TOPO_DOM 180 248 Cytoplasmic. {ECO:0000255}.
DOMAIN 30 143 Ig-like V-type.
MOD_RES 210 210 Phosphoserine; by PKC.
{ECO:0000250|UniProtKB:P10522}.
MOD_RES 226 226 Phosphoserine.
{ECO:0000250|UniProtKB:P27573}.
MOD_RES 228 228 Phosphoserine.
{ECO:0000250|UniProtKB:P27573}.
MOD_RES 233 233 Phosphoserine; by PKC.
{ECO:0000250|UniProtKB:P10522}.
MOD_RES 243 243 Phosphoserine; by PKC.
{ECO:0000250|UniProtKB:P10522}.
CARBOHYD 122 122 N-linked (GlcNAc...) (complex)
asparagine. {ECO:0000250}.
DISULFID 50 127 {ECO:0000255|PROSITE-ProRule:PRU00114,
ECO:0000269|PubMed:21971831}.
VAR_SEQ 248 248 K -> KRLAGRAGDRGLGVESAKGPKVMVIEMELRKDEQSP
ELRPAVKSPSRTSLKNALKNMMGLNSDK (in isoform
L-MPZ). {ECO:0000305}.
/FTId=VSP_045844.
VARIANT 30 30 I -> M (in CMT1B).
{ECO:0000269|PubMed:7694726}.
/FTId=VAR_004500.
VARIANT 32 32 V -> F (in CMT1B; severe).
{ECO:0000269|PubMed:10923043}.
/FTId=VAR_004501.
VARIANT 34 34 T -> I (in CMT1B).
{ECO:0000269|PubMed:8797476}.
/FTId=VAR_004502.
VARIANT 35 35 D -> Y (in CMT1B and CMTDID;
dbSNP:rs121913596).
{ECO:0000269|PubMed:10406984,
ECO:0000269|PubMed:12477701}.
/FTId=VAR_015971.
VARIANT 39 39 H -> P (in CMT1B; slightly reduces
intercellular adhesion; does not affect
targeting to the cell membrane;
dbSNP:rs371856018).
{ECO:0000269|PubMed:14711881,
ECO:0000269|PubMed:18337304}.
/FTId=VAR_054393.
VARIANT 42 42 Missing (in DSS).
{ECO:0000269|PubMed:11596785}.
/FTId=VAR_031884.
VARIANT 44 44 S -> F (in CMT2I and CMT1B;
dbSNP:rs121913598).
{ECO:0000269|PubMed:14711881,
ECO:0000269|PubMed:9595994}.
/FTId=VAR_004503.
VARIANT 50 50 Missing (in CMT1B).
{ECO:0000269|PubMed:14711881}.
/FTId=VAR_054394.
VARIANT 51 57 Missing (in CMT1B; affects targeting to
the cell membrane; reduces intercellular
adhesion). {ECO:0000269|PubMed:18337304}.
/FTId=VAR_054395.
VARIANT 51 51 S -> F (in CMT1B).
{ECO:0000269|PubMed:11437164}.
/FTId=VAR_029971.
VARIANT 54 54 S -> C (in CMT1B; severe).
/FTId=VAR_004504.
VARIANT 54 54 S -> P (in CMT1B). {ECO:0000269|Ref.40}.
/FTId=VAR_004505.
VARIANT 56 56 E -> K (in CMT2).
{ECO:0000269|PubMed:14871447}.
/FTId=VAR_054396.
VARIANT 58 58 V -> F (in CMT1B; moderate).
{ECO:0000269|PubMed:9452099}.
/FTId=VAR_004506.
VARIANT 60 60 D -> H (in CMT2I; dbSNP:rs121913604).
{ECO:0000269|PubMed:14638973}.
/FTId=VAR_029972.
VARIANT 61 61 D -> G (in CMT2; unclassified;
dbSNP:rs786204119).
{ECO:0000269|PubMed:10764043}.
/FTId=VAR_031885.
VARIANT 62 62 I -> F (in CMT1B; dbSNP:rs121913602).
{ECO:0000269|PubMed:10214757,
ECO:0000269|PubMed:12477701}.
/FTId=VAR_015972.
VARIANT 62 62 I -> M (in CMT2I; dbSNP:rs121913605).
{ECO:0000269|PubMed:14638973}.
/FTId=VAR_029973.
VARIANT 63 63 S -> C (in DSS; dbSNP:rs121913585).
{ECO:0000269|PubMed:7506095}.
/FTId=VAR_004508.
VARIANT 63 63 S -> F (in CMT1B; dbSNP:rs121913585).
{ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:8835320}.
/FTId=VAR_004509.
VARIANT 63 63 Missing (in CMT1B).
{ECO:0000269|PubMed:12402337,
ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:7693130}.
/FTId=VAR_004507.
VARIANT 64 64 Missing (in CMT1B and DSS).
{ECO:0000269|PubMed:8630052}.
/FTId=VAR_004510.
VARIANT 65 65 T -> A (in CMT1B).
{ECO:0000269|PubMed:15036333}.
/FTId=VAR_031886.
VARIANT 65 65 T -> I (in CMT1B).
{ECO:0000269|PubMed:12402337}.
/FTId=VAR_029974.
VARIANT 68 68 Y -> C (in CMT1B; severe/mild).
{ECO:0000269|PubMed:10923043,
ECO:0000269|PubMed:12402337,
ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:9452099}.
/FTId=VAR_004511.
VARIANT 75 75 D -> V (in CMT2J and CMT2I;
dbSNP:rs121913597).
{ECO:0000269|PubMed:11080237,
ECO:0000269|PubMed:12402337,
ECO:0000269|PubMed:12477701}.
/FTId=VAR_015973.
VARIANT 78 78 S -> L (in CMT1B; severe;
dbSNP:rs121913601).
{ECO:0000269|PubMed:10965800,
ECO:0000269|PubMed:11437164,
ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:12497641,
ECO:0000269|PubMed:7527371,
ECO:0000269|PubMed:7550231,
ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9633821}.
/FTId=VAR_004512.
VARIANT 78 78 S -> W (in CMT1B).
{ECO:0000269|PubMed:12707985}.
/FTId=VAR_031887.
VARIANT 81 81 H -> R (in CMT1B and CMT2I; severe;
reduces intercellular adhesion; does not
affect targeting to the cell membrane;
dbSNP:rs121913594).
{ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:18337304,
ECO:0000269|PubMed:8990016}.
/FTId=VAR_004513.
VARIANT 81 81 H -> Y (in CMT; associated with F-113;
dbSNP:rs281865123).
{ECO:0000269|PubMed:11801400}.
/FTId=VAR_031888.
VARIANT 82 82 Y -> C (in CMT1B and DSS).
{ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:12402337,
ECO:0000269|PubMed:7505151,
ECO:0000269|PubMed:9633821}.
/FTId=VAR_004514.
VARIANT 89 89 I -> N (in CMT2I; patient carrying also
Met-92 and Met-162; dbSNP:rs267607244).
{ECO:0000269|PubMed:11835375}.
/FTId=VAR_015974.
VARIANT 90 90 D -> E (in CMT1B; dbSNP:rs121913584).
{ECO:0000269|PubMed:7693129}.
/FTId=VAR_004515.
VARIANT 92 92 V -> M (in CMT2I; patient carrying also
Asn-89 and Met-162; dbSNP:rs267607245).
{ECO:0000269|PubMed:11835375}.
/FTId=VAR_015975.
VARIANT 93 93 G -> E (in CMT1B).
{ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:9217235}.
/FTId=VAR_004516.
VARIANT 96 96 K -> E (in CMT1B; dbSNP:rs121913583).
{ECO:0000269|PubMed:7504284,
ECO:0000269|PubMed:7693129}.
/FTId=VAR_004517.
VARIANT 97 97 E -> V (in CMT2J; dbSNP:rs121913606).
{ECO:0000269|PubMed:15326256}.
/FTId=VAR_029975.
VARIANT 98 98 R -> C (in CMT1B and DSS; severe;
dbSNP:rs121913590).
{ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:8797476,
ECO:0000269|PubMed:8816708,
ECO:0000269|PubMed:9187667}.
/FTId=VAR_004518.
VARIANT 98 98 R -> H (in CMT1B; dbSNP:rs121913589).
{ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:11437164,
ECO:0000269|PubMed:12221176,
ECO:0000269|PubMed:14711881,
ECO:0000269|PubMed:7688964,
ECO:0000269|PubMed:8797476}.
/FTId=VAR_004519.
VARIANT 98 98 R -> P (in CMT1B; dbSNP:rs121913589).
/FTId=VAR_004520.
VARIANT 98 98 R -> S (in CMT1B).
{ECO:0000269|PubMed:8816708}.
/FTId=VAR_004521.
VARIANT 99 99 I -> T (in CMT1B).
/FTId=VAR_004522.
VARIANT 101 101 W -> C (in CMT1B).
{ECO:0000269|PubMed:7550231}.
/FTId=VAR_004523.
VARIANT 103 103 G -> E (in CMT1B; dbSNP:rs121913600).
{ECO:0000269|PubMed:11445635}.
/FTId=VAR_015976.
VARIANT 109 109 D -> N (in CMT1B).
{ECO:0000269|PubMed:10545037}.
/FTId=VAR_031889.
VARIANT 110 110 G -> D (in DSS).
{ECO:0000269|PubMed:12497641}.
/FTId=VAR_029976.
VARIANT 112 112 I -> T (in CMT1B; severe).
{ECO:0000269|PubMed:9452099}.
/FTId=VAR_004524.
VARIANT 113 113 V -> F (in CMT; unclassified; associated
with Y-81; dbSNP:rs281865126).
{ECO:0000269|PubMed:11801400}.
/FTId=VAR_031890.
VARIANT 113 113 V -> I (in CMT2).
{ECO:0000269|PubMed:12402337}.
/FTId=VAR_029977.
VARIANT 114 114 I -> T (in DSS; associated on the same
allele as His-116 and Asn-128 in one
patient; dbSNP:rs267607241).
{ECO:0000269|PubMed:9222756}.
/FTId=VAR_004525.
VARIANT 116 116 N -> H (in DSS; associated on the same
allele as Thr-114 and Asn-128 in one
patient; dbSNP:rs267607242).
{ECO:0000269|PubMed:9222756}.
/FTId=VAR_004526.
VARIANT 118 118 D -> DFY (in DSS).
{ECO:0000269|PubMed:9452055}.
/FTId=VAR_004527.
VARIANT 118 118 D -> N (in CMT2I).
{ECO:0000269|PubMed:15241803}.
/FTId=VAR_021609.
VARIANT 119 119 Y -> C (in CMT2; unclassified;
dbSNP:rs879254038).
{ECO:0000269|PubMed:10764043}.
/FTId=VAR_031891.
VARIANT 122 122 N -> S (in CMT1B; loss of glycosylation
site). {ECO:0000269|PubMed:8844219}.
/FTId=VAR_004528.
VARIANT 123 123 G -> C (in DSS and CMT1B).
{ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:14711881}.
/FTId=VAR_015977.
VARIANT 124 125 Missing (in DSS).
{ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:9452091}.
/FTId=VAR_004530.
VARIANT 124 124 T -> K (in CHN; dbSNP:rs121913595).
{ECO:0000269|PubMed:15184631}.
/FTId=VAR_029978.
VARIANT 124 124 T -> M (in CMT1B, CMT2I and CMT2J; CMTJ2
patients present Adie pupil; slightly
reduces intercellular adhesion; does not
affect targeting to the cell membrane;
affects glycosylation;
dbSNP:rs121913595).
{ECO:0000269|PubMed:10071056,
ECO:0000269|PubMed:10329755,
ECO:0000269|PubMed:10923043,
ECO:0000269|PubMed:11080237,
ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:12402337,
ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:15159512,
ECO:0000269|PubMed:16775239,
ECO:0000269|PubMed:18337304,
ECO:0000269|PubMed:9452091}.
/FTId=VAR_004529.
VARIANT 127 127 C -> Y (in DSS).
/FTId=VAR_004531.
VARIANT 128 128 D -> E (in CMT1B).
/FTId=VAR_004532.
VARIANT 128 128 D -> N (in DSS; associated on the same
allele as Thr-114 and His-116 in one
patient; dbSNP:rs267607243).
{ECO:0000269|PubMed:9222756}.
/FTId=VAR_004533.
VARIANT 130 130 K -> R (in CMT1B, CMT2I and DSS;
dbSNP:rs281865127).
{ECO:0000269|PubMed:10923043,
ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:14711881,
ECO:0000269|PubMed:8797476}.
/FTId=VAR_004534.
VARIANT 131 131 N -> K (in ROULS; dbSNP:rs121913599).
{ECO:0000269|PubMed:10553995}.
/FTId=VAR_015978.
VARIANT 132 132 P -> L (in CMT1B; moderate).
{ECO:0000269|PubMed:9452099}.
/FTId=VAR_004535.
VARIANT 134 134 D -> E (in CMT1B).
{ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:7530774}.
/FTId=VAR_004536.
VARIANT 134 134 D -> G (in CMT1B).
{ECO:0000269|PubMed:10737979}.
/FTId=VAR_029979.
VARIANT 134 134 D -> N (in CMT1B).
{ECO:0000269|PubMed:7527371}.
/FTId=VAR_004537.
VARIANT 135 135 I -> L (in CMT1B and DSS;
dbSNP:rs879253858).
{ECO:0000269|PubMed:8797476}.
/FTId=VAR_004538.
VARIANT 135 135 I -> T (in CMT1B; dbSNP:rs121913587).
{ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:8664899}.
/FTId=VAR_004539.
VARIANT 136 136 V -> E (in DSS).
{ECO:0000269|PubMed:11835375}.
/FTId=VAR_015979.
VARIANT 137 137 G -> S (in CMT1B; dbSNP:rs121913588).
{ECO:0000269|PubMed:8664899}.
/FTId=VAR_004540.
VARIANT 138 138 K -> N (in CMT1B).
{ECO:0000269|PubMed:10737979}.
/FTId=VAR_029980.
VARIANT 139 139 T -> N (in CMT1B).
{ECO:0000269|PubMed:10737979}.
/FTId=VAR_029981.
VARIANT 140 140 S -> T (in CMT1B; dbSNP:rs572010627).
{ECO:0000269|PubMed:12207932,
ECO:0000269|PubMed:14711881}.
/FTId=VAR_029982.
VARIANT 143 143 T -> M (in CMT1B; dbSNP:rs750724650).
/FTId=VAR_004541.
VARIANT 145 145 Y -> S (in CMT1B; dbSNP:rs121913603).
{ECO:0000269|PubMed:12845552}.
/FTId=VAR_029983.
VARIANT 146 146 V -> F (in CMT1B).
{ECO:0000269|PubMed:12477701}.
/FTId=VAR_029984.
VARIANT 162 162 I -> M (in CMT2I; patient carrying also
Asn-89 and Met-92; dbSNP:rs267607246).
{ECO:0000269|PubMed:11835375}.
/FTId=VAR_015980.
VARIANT 163 163 G -> R (in CMT1B; dbSNP:rs281865128).
{ECO:0000269|PubMed:12207932,
ECO:0000269|PubMed:12402337}.
/FTId=VAR_004542.
VARIANT 167 167 G -> A (in CMT1B and DSS; severe).
{ECO:0000269|PubMed:9452099}.
/FTId=VAR_004543.
VARIANT 167 167 G -> R (in CMT2I and DSS;
dbSNP:rs121913586).
{ECO:0000269|PubMed:12477701,
ECO:0000269|PubMed:7506095}.
/FTId=VAR_004544.
VARIANT 170 170 L -> R (in CMT1B).
{ECO:0000269|PubMed:12402337}.
/FTId=VAR_029985.
VARIANT 216 216 T -> ER (in CMT1B; referred to as
'T216ER').
/FTId=VAR_029986.
VARIANT 221 221 A -> T (in DSS).
{ECO:0000269|PubMed:11596785}.
/FTId=VAR_031892.
VARIANT 224 224 D -> Y (in CMT1B; also in two
asymptomatic individuals from the same
family; dbSNP:rs267607247).
{ECO:0000269|PubMed:16488608}.
/FTId=VAR_054397.
VARIANT 227 227 R -> S (in CMT1B).
{ECO:0000269|PubMed:14711881}.
/FTId=VAR_054398.
VARIANT 236 236 K -> E (in CMT2I).
{ECO:0000269|PubMed:15241803}.
/FTId=VAR_021610.
VARIANT 236 236 Missing (in CMT1B).
{ECO:0000269|PubMed:12207932}.
/FTId=VAR_029987.
VARIANT 244 244 R -> L (in dbSNP:rs749722729).
/FTId=VAR_004545.
STRAND 36 41 {ECO:0000244|PDB:3OAI}.
STRAND 46 48 {ECO:0000244|PDB:3OAI}.
STRAND 63 70 {ECO:0000244|PDB:3OAI}.
STRAND 77 83 {ECO:0000244|PDB:3OAI}.
STRAND 86 89 {ECO:0000244|PDB:3OAI}.
TURN 94 98 {ECO:0000244|PDB:3OAI}.
STRAND 99 101 {ECO:0000244|PDB:3OAI}.
HELIX 105 107 {ECO:0000244|PDB:3OAI}.
STRAND 112 114 {ECO:0000244|PDB:3OAI}.
HELIX 119 121 {ECO:0000244|PDB:3OAI}.
STRAND 123 131 {ECO:0000244|PDB:3OAI}.
STRAND 134 148 {ECO:0000244|PDB:3OAI}.
SEQUENCE 248 AA; 27555 MW; A93F4744DACB0D5E CRC64;
MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC SFWSSEWVSD
DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ WVGDPRWKDG SIVIHNLDYS
DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV PTRYGVVLGA VIGGVLGVVL LLLLLFYVVR
YCWLRRQAAL QRRLSAMEKG KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK AVSEKKAKGL
GESRKDKK


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EIAAB26135 MPP,Mpz,Myelin peripheral protein,Myelin protein P0,Myelin protein zero,P0,Rat,Rattus norvegicus
EIAAB26134 Bos taurus,Bovine,MPP,MPZ,Myelin peripheral protein,Myelin protein P0,Myelin protein zero
E0999h ELISA kit Homo sapiens,Human,Myelin P2 protein,Peripheral myelin protein 2,PMP2 96T
U0999h CLIA Homo sapiens,Human,Myelin P2 protein,Peripheral myelin protein 2,PMP2 96T
E0999h ELISA Homo sapiens,Human,Myelin P2 protein,Peripheral myelin protein 2,PMP2 96T
U0539h CLIA Homo sapiens,Human,MBP,MBP,Myelin A1 protein,Myelin basic protein,Myelin membrane encephalitogenic protein 96T
E0539h ELISA Homo sapiens,Human,MBP,MBP,Myelin A1 protein,Myelin basic protein,Myelin membrane encephalitogenic protein 96T
E0539h ELISA kit Homo sapiens,Human,MBP,MBP,Myelin A1 protein,Myelin basic protein,Myelin membrane encephalitogenic protein 96T
EIAAB31656 Cd25,Peripheral myelin protein 22,Pmp22,PMP-22,Pmp-22,Protein CD25,Rat,Rattus norvegicus,SAG,Schwann cell membrane glycoprotein,SR13 myelin protein
EIAAB26136 Chicken,Gallus gallus,MPP,MPZ,Myelin peripheral protein,Myelin protein P0,Myelin protein zero
E0539Rb ELISA kit MBP,MBP,Myelin A1 protein,Myelin basic protein,Myelin P1 protein,Oryctolagus cuniculus,Rabbit 96T
U0539Rb CLIA MBP,MBP,Myelin A1 protein,Myelin basic protein,Myelin P1 protein,Oryctolagus cuniculus,Rabbit 96T
E0539Rb ELISA MBP,MBP,Myelin A1 protein,Myelin basic protein,Myelin P1 protein,Oryctolagus cuniculus,Rabbit 96T
06-271-83342 Myelin Basic Protein (68-82) Guinea Pig - MBP; Myelin A1 protein; Myelin membrane encephalitogenic protein 1 mg
20-272-190388 Myelin Basic Protein - Mouse monoclonal [26] to Myelin Basic Protein; MBP; Myelin A1 protein; Myelin membrane encephalitogenic protein Monoclonal 1 ml
20-272-190416 Myelin Basic Protein - Mouse monoclonal [22] to Myelin Basic Protein; MBP; Myelin A1 protein; Myelin membrane encephalitogenic protein Monoclonal 1 ml
bs-0337P Peptides: myelin P0 prothein( peripheral myelin prothein Zero;MPZ;MPP) Protein Length:12-25 amino acids. 200ug lyophilized
18-272-196401 Myelin Basic Protein prediluted - Rabbit polyclonal to Myelin Basic Protein prediluted; MBP; Myelin A1 protein; Myelin membrane encephalitogenic protein Polyclonal 7 ml
18-272-197086 Myelin Basic Protein - Oligodendrocyte Marker - Rabbit polyclonal to Myelin Basic Protein - Oligodendrocyte Marker; MBP; Myelin A1 protein; Myelin membrane encephalitogenic protein Polyclonal 0.25 ml
E0539b ELISA kit 20 kDa microtubule-stabilizing protein,Bos taurus,Bovine,MBP,MBP,Myelin A1 protein,Myelin basic protein 96T
U0539b CLIA 20 kDa microtubule-stabilizing protein,Bos taurus,Bovine,MBP,MBP,Myelin A1 protein,Myelin basic protein 96T
E0539b ELISA 20 kDa microtubule-stabilizing protein,Bos taurus,Bovine,MBP,MBP,Myelin A1 protein,Myelin basic protein 96T
EIAAB30525 Edr,Embryonal carcinoma differentiation regulated protein,Mammalian retrotransposon-derived protein 2,Mar2,Mart2,Mef3l1,MEF3-like protein 1,Mouse,Mus musculus,MyEF-3,Myelin expression factor 3,Myelin


 

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