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Peripheral myelin protein 22 (PMP-22) (Growth arrest-specific protein 3) (GAS-3)

 PMP22_HUMAN             Reviewed;         160 AA.
Q01453; Q8WV01;
01-APR-1993, integrated into UniProtKB/Swiss-Prot.
01-APR-1993, sequence version 1.
25-OCT-2017, entry version 185.
RecName: Full=Peripheral myelin protein 22;
Short=PMP-22;
AltName: Full=Growth arrest-specific protein 3;
Short=GAS-3;
Name=PMP22; Synonyms=GAS3;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=1303228; DOI=10.1038/ng0692-159;
Patel P.I., Roa B.B., Welcher A.A., Schoener-Scott R., Trask B.,
Pentao L., Snipes G.J., Garcia C.A., Francke U., Shooter E.M.,
Lupski J.R., Suter U.;
"The gene for the peripheral myelin protein PMP-22 is a candidate for
Charcot-Marie-Tooth disease type 1A.";
Nat. Genet. 1:159-165(1992).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Spinal cord;
PubMed=1497668; DOI=10.1016/0006-291X(92)90820-B;
Hayasaka K., Himoro M., Nanao K., Sato W., Miura M., Uyemura K.,
Takahashi E., Takada G.;
"Isolation and sequence determination of cDNA encoding PMP-22 (PAS-
II/SR13/Gas-3) of human peripheral myelin.";
Biochem. Biophys. Res. Commun. 186:827-831(1992).
[3]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT CMT1A PRO-16.
PubMed=1303281; DOI=10.1038/ng1292-288;
Valentijn L.J., Baas F., Wolterman R.A., Hoogendijk J.E.,
van den Bosch N.H.A., Zorn I., Gabreeels-Festen A.A.W.M.,
de Visser M., Bolhuis P.A.;
"Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-
Marie-Tooth disease type 1A.";
Nat. Genet. 2:288-291(1992).
[4]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=8482547; DOI=10.1016/0378-1119(93)90384-F;
Edomi P., Martinotti A., Colombo M.P., Schneider C.;
"Sequence of human GAS3/PMP22 full-length cDNA.";
Gene 126:289-290(1993).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Kidney;
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 [MRNA] OF 61-160.
TISSUE=Fetal fibroblast;
PubMed=1303210; DOI=10.1093/hmg/1.5.331;
Martinotti A., Cariani C.T., Melani C., Sozzi G., Spurr N.K.,
Pierotti M.A., Colombo M.P.;
"Isolation and mapping to 17p12-13 of the human homologous of the
murine growth arrest specific Gas-3 gene.";
Hum. Mol. Genet. 1:331-334(1992).
[7]
REVIEW ON CMT1A VARIANTS.
PubMed=7762451;
Roa B.B., Lupski J.R.;
"Molecular genetics of Charcot-Marie-Tooth neuropathy.";
Adv. Hum. Genet. 22:117-152(1994).
[8]
REVIEW ON CMT1A 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).
[9]
REVIEW ON CMT1A 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).
[10]
STRUCTURE BY NMR OF WILD TYPE AND MUTANT PRO-16, SUBCELLULAR LOCATION,
AND TOPOLOGY.
PubMed=21827951; DOI=10.1016/j.str.2011.05.009;
Sakakura M., Hadziselimovic A., Wang Z., Schey K.L., Sanders C.R.;
"Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth
disease.";
Structure 19:1160-1169(2011).
[11]
VARIANTS DSS LYS-69 AND LEU-72, AND VARIANTS CMT1A CYS-79 AND MET-118.
PubMed=8252046; DOI=10.1038/ng1093-189;
Roa B.B., Garcia C.A., Pentao L., Killian J.M., Trask B.J., Suter U.,
Snipes G.J., Ortiz-Lopez R., Shooter E.M., Patel P.I., Lupski J.R.;
"Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth
disease type 1A.";
Nat. Genet. 5:189-194(1993).
[12]
VARIANTS DSS LYS-69 AND LEU-72.
PubMed=8275092; DOI=10.1038/ng1193-269;
Roa B.B., Dyck P.J., Marks H.G., Chance P.F., Lupski J.R.;
"Dejerine-Sottas syndrome associated with point mutation in the
peripheral myelin protein 22 (PMP22) gene.";
Nat. Genet. 5:269-273(1993).
[13]
VARIANT CMT1A CYS-79.
PubMed=8510709; DOI=10.1056/NEJM199307083290205;
Roa B.B., Garcia C.A., Suter U., Kulpa D.A., Wise C.A., Mueller J.,
Welcher A.A., Snipes G.J., Shooter E.M., Patel P.I., Lupski J.R.;
"Charcot-Marie-Tooth disease type 1A. Association with a spontaneous
point mutation in the PMP22 gene.";
N. Engl. J. Med. 329:96-101(1993).
[14]
VARIANT CMT1A ARG-105.
PubMed=8615087; DOI=10.1007/BF00318579;
Gabreeels-Festen A.A.W.M., Bolhuis P.A., Hoogendijk J.E.,
Valentijn L.J., Eshuis E.J., Gabreeels F.J.M.;
"Charcot-Marie-Tooth disease type 1A: morphological phenotype of the
17p duplication versus PMP22 point mutations.";
Acta Neuropathol. 90:645-649(1995).
[15]
VARIANT DSS GLN-12.
PubMed=7728152; DOI=10.1002/humu.1380050110;
Valentijn L.J., Ouvrier R.A., van den Bosch N.H.A., Bolhuis P.A.,
Baas F., Nicholson G.A.;
"Dejerine-Sottas neuropathy is associated with a de novo PMP22
mutation.";
Hum. Mutat. 5:76-80(1995).
[16]
VARIANT DSS LEU-72.
PubMed=7675244; DOI=10.1212/WNL.45.9.1766;
Ionasescu V.V., Ionasescu R., Searby C.C., Neahring R.;
"Dejerine-Sottas disease with de novo dominant point mutation of the
PMP22 gene.";
Neurology 45:1766-1767(1995).
[17]
VARIANT CMT1A ARG-93.
PubMed=8777804;
Ohnishi A., Yoshimura T., Kanehisa Y., Fukushima Y.;
"A case of hereditary motor and sensory neuropathy type I with a new
type of peripheral myelin protein (PMP)-22 mutation.";
Rinsho Shinkeigaku 35:788-792(1995).
[18]
VARIANT CMT1A ARG-147.
PubMed=8655153; DOI=10.1007/BF02281883;
Navon R., Seifried B., Gal-On N.S., Sadeh M.;
"A new point mutation affecting the fourth transmembrane domain of
PMP22 results in severe de novo Charcot-Marie-Tooth disease.";
Hum. Genet. 97:685-687(1996).
[19]
VARIANT DSS LEU-72.
PubMed=9004143; DOI=10.1136/jmg.33.12.1048;
Ionasescu V.V., Searby C., Greenberg S.A.;
"Dejerine-Sottas disease with sensorineural hearing loss, nystagmus,
and peripheral facial nerve weakness: de novo dominant point mutation
of the PMP22 gene.";
J. Med. Genet. 33:1048-1049(1996).
[20]
VARIANTS DSS TRP-72; ILE-76 AND PRO-80.
PubMed=9055797; DOI=10.1093/brain/120.1.47;
Tyson J., Ellis D., Fairbrother U., King R.H., Muntoni F., Jacobs J.,
Malcolm S., Harding A.E., Thomas P.K.;
"Hereditary demyelinating neuropathy of infancy. A genetically complex
syndrome.";
Brain 120:47-63(1997).
[21]
VARIANT DSS ARG-100.
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).
[22]
VARIANT DSS ASP-150.
PubMed=8995589;
DOI=10.1002/(SICI)1097-4598(199701)20:1<97::AID-MUS13>3.0.CO;2-Z;
Ionasescu V.V., Searby C.C., Ionasescu R., Chatkupt S., Patel N.,
Koenigsberger R.;
"Dejerine-Sottas neuropathy in mother and son with same point mutation
of PMP22 gene.";
Muscle Nerve 20:97-99(1997).
[23]
VARIANT MET-118.
PubMed=8988161; DOI=10.1038/ng0197-13;
Nelis E., Holmberg B., Adolfsson R., Holmgren G., van Broeckhoven C.;
"PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?";
Nat. Genet. 15:13-14(1997).
[24]
VARIANT CMT1A VAL-107.
PubMed=9040744; DOI=10.1212/WNL.48.2.489;
Marrosu M.G., Vaccargiu S., Marrosu G., Vannelli A., Cianchetti C.,
Muntoni F.;
"A novel point mutation in the peripheral myelin protein 22 (PMP22)
gene associated with Charcot-Marie-Tooth disease type 1A.";
Neurology 48:489-493(1997).
[25]
VARIANTS DSS LEU-72 AND GLU-100.
PubMed=9585367; DOI=10.1002/ana.410430521;
Marques W. Jr., Thomas P.K., Sweeney M.G., Carr L., Wood N.W.;
"Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair
substitution and a possible 'hot spot' on Ser72.";
Ann. Neurol. 43:680-683(1998).
[26]
VARIANT DSS CYS-150.
PubMed=9544841; DOI=10.1007/s004390050694;
Ikegami T., Ikeda H., Aoyama M., Matsuki T., Imota T., Fukuuchi Y.,
Amano T., Toyoshima I., Ishihara Y., Endoh H., Hayasaka K.;
"Novel mutations of the peripheral myelin protein 22 gene in two
pedigrees with Dejerine-Sottas disease.";
Hum. Genet. 102:294-298(1998).
[27]
VARIANT DSS PRO-79.
PubMed=9452053;
Bort S., Sevilla T., Garcia-Planells J., Blesa D., Paricio N.,
Vilchez J.J., Prieto F., Palau F.;
"Dejerine-Sottas neuropathy associated with de novo S79P mutation of
the peripheral myelin protein 22 (PMP22) gene.";
Hum. Mutat. Suppl. 1:S95-S98(1998).
[28]
VARIANT MET-118.
PubMed=9452099;
Sorour E., Upadhyaya M.;
"Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).";
Hum. Mutat. Suppl. 1:S242-S247(1998).
[29]
VARIANT DSS PHE-84 DEL.
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).
[30]
VARIANT HNPP MET-30.
PubMed=9748013; DOI=10.1212/WNL.51.3.702;
Sahenk Z., Chen L., Freimer M.;
"A novel PMP22 point mutation causing HNPP phenotype: studies on nerve
xenografts.";
Neurology 51:702-707(1998).
[31]
VARIANT CMT1E PRO-67.
PubMed=10330345; DOI=10.1086/302420;
Kovach M.J., Lin J.-P., Boyadjiev S., Campbell K., Mazzeo L.,
Herman K., Rimer L.A., Frank W., Llewellyn B., Wang Jabs E.,
Gelber D., Kimonis V.E.;
"A unique point mutation in the PMP22 gene is associated with Charcot-
Marie-Tooth disease and deafness.";
Am. J. Hum. Genet. 64:1580-1593(1999).
[32]
VARIANT DSS TRP-157.
TISSUE=Peripheral blood;
PubMed=10211478;
DOI=10.1002/1531-8249(199904)45:4<518::AID-ANA15>3.0.CO;2-U;
Parman Y., Plante-Bordeneuve V., Guiochon-Mantel A., Eraksoy M.,
Said G.;
"Recessive inheritance of a new point mutation of the PMP22 gene in
Dejerine-Sottas disease.";
Ann. Neurol. 45:518-522(1999).
[33]
VARIANT CMT1A VAL-37.
PubMed=10489052; DOI=10.1212/WNL.53.4.846;
Fabrizi G.M., Cavallaro T., Taioli F., Orrico D., Morbin M.,
Simonati A., Rizzuto N.;
"Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a
point mutation of peripheral myelin protein-22.";
Neurology 53:846-851(1999).
[34]
VARIANT DSS ARG-149.
PubMed=10663978; DOI=10.1007/PL00007446;
Ohnishi A., Yamamoto T., Izawa K., Yamamori S., Takahashi K., Mega H.,
Jinnai K.;
"Dejerine-Sottas disease with a novel de novo dominant mutation, Ser
149 Arg, of the peripheral myelin protein 22.";
Acta Neuropathol. 99:327-330(2000).
[35]
VARIANT GLY-157.
TISSUE=Peripheral blood leukocyte;
PubMed=10632107;
DOI=10.1002/1531-8249(200001)47:1<101::AID-ANA16>3.0.CO;2-2;
Numakura C., Lin C., Oka N., Akiguchi I., Hayasaka K.;
"Hemizygous mutation of the peripheral myelin protein 22 gene
associated with Charcot-Marie-Tooth disease type 1.";
Ann. Neurol. 47:101-103(2000).
[36]
VARIANT CMT1A LEU-72.
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).
[37]
VARIANTS CMT1A 25-VAL-SER-26 DEL AND ARG-147, AND VARIANT MET-118.
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).
[38]
VARIANTS DSS LEU-72 AND ARG-109.
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).
[39]
INVOLVEMENT IN IDP.
PubMed=12439896; DOI=10.1002/ajmg.10725;
Korn-Lubetzki I., Argov Z., Raas-Rothschild A., Wirguin I.,
Steiner I.;
"Family with inflammatory demyelinating polyneuropathy and the HNPP
17p12 deletion.";
Am. J. Med. Genet. 113:275-278(2002).
[40]
VARIANT CMT1E ARG-28, AND VARIANT CMT1A/DSS PRO-71.
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).
[41]
VARIANT CMT1A LEU-72.
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).
[42]
VARIANTS DSS PRO-16; ARG-80 AND ARG-105.
PubMed=12090401; DOI=10.1046/j.1469-7580.2002.00043.x;
Gabreeels-Festen A.A.W.M.;
"Dejerine-Sottas syndrome grown to maturity: overview of genetic and
morphological heterogeneity and follow-up of 25 patients.";
J. Anat. 200:341-356(2002).
[43]
VARIANT CMT1A PHE-65.
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).
[44]
VARIANT CMT1E 115-ALA--THR-118 DEL.
PubMed=12578939; DOI=10.1212/01.WNL.0000044048.27971.FC;
Sambuughin N., de Bantel A., McWilliams S., Sivakumar K.;
"Deafness and CMT disease associated with a novel four amino acid
deletion in the PMP22 gene.";
Neurology 60:506-508(2003).
[45]
VARIANT HNPP THR-67.
PubMed=12796555; DOI=10.1212/01.WNL.0000066049.13848.F2;
Nodera H., Nishimura M., Logigian E.L., Herrmann D.N., Kaji R.;
"HNPP due to a novel missense mutation of the PMP22 gene.";
Neurology 60:1863-1864(2003).
[46]
VARIANT HNPP/CMT1A PHE-22.
PubMed=15205993; DOI=10.1007/s10048-004-0184-1;
Kleopa K.A., Georgiou D.-M., Nicolaou P., Koutsou P.,
Papathanasiou E., Kyriakides T., Christodoulou K.;
"A novel PMP22 mutation Ser22Phe in a family with hereditary
neuropathy with liability to pressure palsies and CMT1A phenotypes.";
Neurogenetics 5:171-175(2004).
[47]
VARIANT CMT1E ARG-23.
PubMed=15099592; DOI=10.1016/j.nmd.2004.02.009;
Joo I.S., Ki C.S., Joo S.Y., Huh K., Kim J.W.;
"A novel point mutation in PMP22 gene associated with a familial case
of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.";
Neuromuscul. Disord. 14:325-328(2004).
[48]
VARIANT CNT1A MET-118.
PubMed=16437560; DOI=10.1002/ana.20777;
Shy M.E., Scavina M.T., Clark A., Krajewski K.M., Li J., Kamholz J.,
Kolodny E., Szigeti K., Fischer R.A., Saifi G.M., Scherer S.S.,
Lupski J.R.;
"T118M PMP22 mutation causes partial loss of function and HNPP-like
neuropathy.";
Ann. Neurol. 59:358-364(2006).
-!- FUNCTION: Might be involved in growth regulation, and in
myelinization in the peripheral nervous system.
-!- INTERACTION:
O43889-2:CREB3; NbExp=3; IntAct=EBI-2845982, EBI-625022;
P26715:KLRC1; NbExp=5; IntAct=EBI-2845982, EBI-9018187;
Q9BZL3:SMIM3; NbExp=8; IntAct=EBI-2845982, EBI-741850;
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21827951};
Multi-pass membrane protein {ECO:0000269|PubMed:21827951}.
-!- DISEASE: Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]: 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:10489052, ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:11140841, ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12497641,
ECO:0000269|PubMed:1303281, ECO:0000269|PubMed:15205993,
ECO:0000269|PubMed:8252046, ECO:0000269|PubMed:8510709,
ECO:0000269|PubMed:8615087, ECO:0000269|PubMed:8655153,
ECO:0000269|PubMed:8777804, ECO:0000269|PubMed:9040744}. 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:10211478, ECO:0000269|PubMed:10663978,
ECO:0000269|PubMed:11438991, ECO:0000269|PubMed:12090401,
ECO:0000269|PubMed:7675244, ECO:0000269|PubMed:7728152,
ECO:0000269|PubMed:8252046, ECO:0000269|PubMed:8275092,
ECO:0000269|PubMed:8995589, ECO:0000269|PubMed:9004143,
ECO:0000269|PubMed:9055797, ECO:0000269|PubMed:9187667,
ECO:0000269|PubMed:9452053, ECO:0000269|PubMed:9544841,
ECO:0000269|PubMed:9585367, ECO:0000269|PubMed:9633821}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Hereditary neuropathy with liability to pressure palsies
(HNPP) [MIM:162500]: A neurologic disorder characterized by
transient episodes of decreased perception or peripheral nerve
palsies after slight traction, compression or minor traumas.
{ECO:0000269|PubMed:12796555, ECO:0000269|PubMed:15205993,
ECO:0000269|PubMed:9748013}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Charcot-Marie-Tooth disease 1E (CMT1E) [MIM:118300]: An
autosomal dominant form of Charcot-Marie-Tooth disease
characterized by the association of sensorineural hearing loss
with peripheral demyelinating neuropathy.
{ECO:0000269|PubMed:10330345, ECO:0000269|PubMed:11835375,
ECO:0000269|PubMed:12578939, ECO:0000269|PubMed:15099592}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Inflammatory demyelinating polyneuropathy (IDP)
[MIM:139393]: Putative autoimmune disorder presenting in an acute
(AIDP) or chronic form (CIDP). The acute form is also known as
Guillain-Barre syndrome. {ECO:0000269|PubMed:12439896}. Note=The
disease may be caused by mutations affecting the gene represented
in this entry.
-!- SIMILARITY: Belongs to the PMP-22/EMP/MP20 family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db;
URL="http://www.molgen.ua.ac.be/CMTMutations/";
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; M94048; AAA36457.1; -; mRNA.
EMBL; D11428; BAA01995.1; -; mRNA.
EMBL; S61788; AAB26811.1; -; mRNA.
EMBL; L03203; AAA58495.1; -; mRNA.
EMBL; BC019040; AAH19040.2; -; mRNA.
EMBL; X65968; CAA46781.1; -; mRNA.
CCDS; CCDS11168.1; -.
PIR; JN0503; JN0503.
RefSeq; NP_000295.1; NM_000304.3.
RefSeq; NP_001268384.1; NM_001281455.1.
RefSeq; NP_001268385.1; NM_001281456.1.
RefSeq; NP_696996.1; NM_153321.2.
RefSeq; NP_696997.1; NM_153322.2.
UniGene; Hs.372031; -.
UniGene; Hs.658306; -.
ProteinModelPortal; Q01453; -.
SMR; Q01453; -.
BioGrid; 111389; 10.
ELM; Q01453; -.
IntAct; Q01453; 19.
STRING; 9606.ENSP00000308937; -.
ChEMBL; CHEMBL1293298; -.
TCDB; 1.H.1.2.2; the claudin tight junction (claudin1) family.
iPTMnet; Q01453; -.
PhosphoSitePlus; Q01453; -.
DMDM; 266803; -.
PaxDb; Q01453; -.
PRIDE; Q01453; -.
DNASU; 5376; -.
Ensembl; ENST00000312280; ENSP00000308937; ENSG00000109099.
Ensembl; ENST00000395938; ENSP00000379269; ENSG00000109099.
Ensembl; ENST00000612492; ENSP00000484631; ENSG00000109099.
GeneID; 5376; -.
KEGG; hsa:5376; -.
CTD; 5376; -.
DisGeNET; 5376; -.
EuPathDB; HostDB:ENSG00000109099.13; -.
GeneCards; PMP22; -.
GeneReviews; PMP22; -.
H-InvDB; HIX0039508; -.
HGNC; HGNC:9118; PMP22.
MalaCards; PMP22; -.
MIM; 118220; phenotype.
MIM; 118300; phenotype.
MIM; 139393; phenotype.
MIM; 145900; phenotype.
MIM; 162500; phenotype.
MIM; 601097; gene.
neXtProt; NX_Q01453; -.
OpenTargets; ENSG00000109099; -.
Orphanet; 98916; Acute inflammatory demyelinating polyradiculoneuropathy.
Orphanet; 101081; Charcot-Marie-Tooth disease type 1A.
Orphanet; 90658; Charcot-Marie-Tooth disease type 1E.
Orphanet; 64748; Dejerine-Sottas syndrome.
Orphanet; 640; Hereditary neuropathy with liability to pressure palsies.
Orphanet; 3115; Roussy-Levy syndrome.
PharmGKB; PA33444; -.
eggNOG; ENOG410IWVJ; Eukaryota.
eggNOG; ENOG4111SX3; LUCA.
GeneTree; ENSGT00510000046328; -.
HOGENOM; HOG000059542; -.
HOVERGEN; HBG001690; -.
InParanoid; Q01453; -.
KO; K19289; -.
OMA; RFYITGV; -.
PhylomeDB; Q01453; -.
TreeFam; TF330414; -.
SIGNOR; Q01453; -.
ChiTaRS; PMP22; human.
GeneWiki; Peripheral_myelin_protein_22; -.
GenomeRNAi; 5376; -.
PRO; PR:Q01453; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000109099; -.
CleanEx; HS_PMP22; -.
ExpressionAtlas; Q01453; baseline and differential.
Genevisible; Q01453; HS.
GO; GO:0005923; C:bicellular tight junction; IEA:Ensembl.
GO; GO:0043218; C:compact myelin; IEA:Ensembl.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
GO; GO:0032060; P:bleb assembly; IDA:UniProtKB.
GO; GO:0008219; P:cell death; IDA:UniProtKB.
GO; GO:0007268; P:chemical synaptic transmission; TAS:ProtInc.
GO; GO:0042552; P:myelination; IEA:Ensembl.
GO; GO:0008285; P:negative regulation of cell proliferation; IEA:Ensembl.
GO; GO:0010977; P:negative regulation of neuron projection development; IEA:Ensembl.
GO; GO:0007422; P:peripheral nervous system development; TAS:ProtInc.
InterPro; IPR003936; PMP22.
InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
InterPro; IPR004032; PMP22_EMP_MP20.
PANTHER; PTHR10671:SF7; PTHR10671:SF7; 1.
Pfam; PF00822; PMP22_Claudin; 1.
PRINTS; PR01453; EPMEMFAMILY.
PRINTS; PR01458; PMYELIN22.
PROSITE; PS01221; PMP22_1; 1.
PROSITE; PS01222; PMP22_2; 1.
1: Evidence at protein level;
Cell membrane; Charcot-Marie-Tooth disease; Complete proteome;
Deafness; Dejerine-Sottas syndrome; Disease mutation; Glycoprotein;
Membrane; Neurodegeneration; Neuropathy; Polymorphism;
Reference proteome; Transmembrane; Transmembrane helix.
CHAIN 1 160 Peripheral myelin protein 22.
/FTId=PRO_0000164650.
TOPO_DOM 1 1 Cytoplasmic. {ECO:0000255}.
TRANSMEM 2 31 Helical. {ECO:0000250}.
TOPO_DOM 32 64 Extracellular. {ECO:0000255}.
TRANSMEM 65 91 Helical. {ECO:0000250}.
TOPO_DOM 92 95 Cytoplasmic. {ECO:0000255}.
TRANSMEM 96 119 Helical. {ECO:0000250}.
TOPO_DOM 120 133 Extracellular. {ECO:0000255}.
TRANSMEM 134 156 Helical. {ECO:0000250}.
TOPO_DOM 157 160 Cytoplasmic. {ECO:0000255}.
CARBOHYD 41 41 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VARIANT 12 12 H -> Q (in DSS; dbSNP:rs104894622).
{ECO:0000269|PubMed:7728152}.
/FTId=VAR_006359.
VARIANT 16 16 L -> P (in CMT1A and DSS;
dbSNP:rs104894617).
{ECO:0000269|PubMed:12090401,
ECO:0000269|PubMed:1303281}.
/FTId=VAR_006360.
VARIANT 19 19 L -> P (in DSS).
/FTId=VAR_006361.
VARIANT 22 22 S -> F (in HNPP and CMT1A;
dbSNP:rs104894625).
{ECO:0000269|PubMed:15205993}.
/FTId=VAR_029960.
VARIANT 23 23 T -> R (in CMT1E).
{ECO:0000269|PubMed:15099592}.
/FTId=VAR_029961.
VARIANT 25 26 Missing (in CMT1A).
{ECO:0000269|PubMed:10737979}.
/FTId=VAR_029962.
VARIANT 28 28 W -> R (in CMT1E; dbSNP:rs104894626).
{ECO:0000269|PubMed:11835375}.
/FTId=VAR_029963.
VARIANT 30 30 V -> M (in HNPP; dbSNP:rs377335295).
{ECO:0000269|PubMed:9748013}.
/FTId=VAR_009659.
VARIANT 37 37 D -> V (in CMT1A; with focally folded
myelin sheaths; dbSNP:rs104894627).
{ECO:0000269|PubMed:10489052}.
/FTId=VAR_009660.
VARIANT 65 65 V -> F (in CMT1A).
{ECO:0000269|PubMed:12497641}.
/FTId=VAR_029964.
VARIANT 67 67 A -> P (in CMT1E; dbSNP:rs104894623).
{ECO:0000269|PubMed:10330345}.
/FTId=VAR_009661.
VARIANT 67 67 A -> T (in HNPP; dbSNP:rs104894623).
{ECO:0000269|PubMed:12796555}.
/FTId=VAR_029965.
VARIANT 69 69 M -> K (in DSS; dbSNP:rs104894620).
{ECO:0000269|PubMed:8252046,
ECO:0000269|PubMed:8275092}.
/FTId=VAR_006362.
VARIANT 71 71 L -> P (in DSS).
{ECO:0000269|PubMed:11835375}.
/FTId=VAR_029966.
VARIANT 72 72 S -> L (in DSS and CMT1A;
dbSNP:rs104894621).
{ECO:0000269|PubMed:11140841,
ECO:0000269|PubMed:11438991,
ECO:0000269|PubMed:12402337,
ECO:0000269|PubMed:7675244,
ECO:0000269|PubMed:8252046,
ECO:0000269|PubMed:8275092,
ECO:0000269|PubMed:9004143,
ECO:0000269|PubMed:9585367}.
/FTId=VAR_006363.
VARIANT 72 72 S -> P (in DSS).
/FTId=VAR_006364.
VARIANT 72 72 S -> W (in DSS).
{ECO:0000269|PubMed:9055797}.
/FTId=VAR_006365.
VARIANT 76 76 S -> I (in DSS).
{ECO:0000269|PubMed:9055797}.
/FTId=VAR_006366.
VARIANT 79 79 S -> C (in CMT1A; dbSNP:rs104894618).
{ECO:0000269|PubMed:8252046,
ECO:0000269|PubMed:8510709}.
/FTId=VAR_006367.
VARIANT 79 79 S -> P (in DSS).
{ECO:0000269|PubMed:9452053}.
/FTId=VAR_006368.
VARIANT 80 80 L -> P (in DSS).
{ECO:0000269|PubMed:9055797}.
/FTId=VAR_006369.
VARIANT 80 80 L -> R (in DSS).
{ECO:0000269|PubMed:12090401}.
/FTId=VAR_029967.
VARIANT 84 84 Missing (in DSS).
{ECO:0000269|PubMed:9633821}.
/FTId=VAR_006370.
VARIANT 93 93 G -> R (in CMT1A; dbSNP:rs778693173).
{ECO:0000269|PubMed:8777804}.
/FTId=VAR_009662.
VARIANT 100 100 G -> E (in DSS).
{ECO:0000269|PubMed:9585367}.
/FTId=VAR_006371.
VARIANT 100 100 G -> R (in DSS).
{ECO:0000269|PubMed:9187667}.
/FTId=VAR_006372.
VARIANT 105 105 L -> R (in CMT1A and DSS).
{ECO:0000269|PubMed:12090401,
ECO:0000269|PubMed:8615087}.
/FTId=VAR_006373.
VARIANT 107 107 G -> V (in CMT1A).
{ECO:0000269|PubMed:9040744}.
/FTId=VAR_006374.
VARIANT 109 109 C -> R (in DSS).
{ECO:0000269|PubMed:11438991}.
/FTId=VAR_029968.
VARIANT 115 118 Missing (in CMT1E).
{ECO:0000269|PubMed:12578939}.
/FTId=VAR_029969.
VARIANT 118 118 T -> M (in CMT1A; dbSNP:rs104894619).
{ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:16437560,
ECO:0000269|PubMed:8252046,
ECO:0000269|PubMed:8988161,
ECO:0000269|PubMed:9452099}.
/FTId=VAR_006375.
VARIANT 137 137 I -> V (in dbSNP:rs755551524).
/FTId=VAR_006376.
VARIANT 147 147 L -> R (in CMT1A).
{ECO:0000269|PubMed:10737979,
ECO:0000269|PubMed:8655153}.
/FTId=VAR_006377.
VARIANT 149 149 S -> R (in DSS; dbSNP:rs775019409).
{ECO:0000269|PubMed:10663978}.
/FTId=VAR_029970.
VARIANT 150 150 G -> C (in DSS; dbSNP:rs104894624).
{ECO:0000269|PubMed:9544841}.
/FTId=VAR_006378.
VARIANT 150 150 G -> D (in DSS; dbSNP:rs879253954).
{ECO:0000269|PubMed:8995589}.
/FTId=VAR_006379.
VARIANT 157 157 R -> G (in dbSNP:rs28936682).
{ECO:0000269|PubMed:10632107}.
/FTId=VAR_009663.
VARIANT 157 157 R -> W (in DSS; dbSNP:rs28936682).
{ECO:0000269|PubMed:10211478}.
/FTId=VAR_009664.
SEQUENCE 160 AA; 17891 MW; 7ECF7F91BED0CF9D CRC64;
MLLLLLSIIV LHVAVLVLLF VSTIVSQWIV GNGHATDLWQ NCSTSSSGNV HHCFSSSPNE
WLQSVQATMI LSIIFSILSL FLFFCQLFTL TKGGRFYITG IFQILAGLCV MSAAAIYTVR
HPEWHLNSDY SYGFAYILAW VAFPLALLSG VIYVILRKRE


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