Gene: [17p112/PMP22] peripheral myelin protein 22; growth arrest-specific gene 3; Charcot-Marie-Tooth neuropathy 1A (MIM:118220); neuropathy, hereditary, with liability to pressure palsies (MIM:162500); hereditary motor and sensory neuropathy type III (Dejerine-Sottas syndrome; MIM:145900); [CMT1A GAS3 ]
MOP | PMP22 is an integral membrane protein with 4 transmembrane domains. It is expressed by Schwann cells and is localized mainly in compact peripheral nervous system myelin." |
FAG | [1] On peripheral myelin protein 2 see GEM:08q2/PMP2. [2] About other growth arrest-specific genes see GEM:09q2/GAS1 and GEM:13q34/GAS6." |
CAG | [1]
Charcot-Marie-Tooth disease is a sensorineural polyneuropathy which
comprises autosomal dominant (CMT1 - hypertrophic forms, CMT2 - neuronal
forms), autosomal recessive (CMT4), and X-linked forms (CMTX): CMT1A - 1A
form due to mutation in PMP22 gene (this locus); CMT1B - 1B form due to
mutation in MPZ gene (GEM:01q22/MPZ); CMT2A -
2A form (GEM:01p36/CMT2A); CMT2B - 2B form
(GEM:03q/CMT2B); CMT4A - 4A form (GEM:08q/CMT4A); CMT4B - 4B form (GEM:11q23/CMT4B); CMTX1 - X1 form due to mutation in
GJB1 gene (GEM:0Xq131/GJB1); CMTX2 - X2 form
(GEM:0Xp222/CMTX2): CMTX3 - X3 form (GEM:0Xq26/CMTX3); CMTX4 - X4 form (GEM:0Xq2/CMTX4). [2] Umehara-1995 and Gonnaud-1995 found deletions in Chr 17p11.2 including the PMP22 gene in hereditary neuropathy with liability to pressure palsies. [3] Roa-1993 found 2 point mutations in the PMP22 gene also caused Dejerine-Sottas syndrome." |
REF | PAT,LIN "Beckett J &: J Neurogenet, 3, 225-231,
1986 MUT "Chance PF &: Cell, 72, 143-151, 1993 CLO,SEQ "Edomi P &: Gene, 126, 289-290, 1993 MOL,PAT "Gonnaud PM &: Acta Neurol Scand, 92, 313-318, 1995 MOL,PAT "Gouider R &: Neurology, 45, 2018-2023, 1995 HET "Griffiths &: Neurology, 39, 280-281, 1989 MOL,PAT "Le Guern E &: Hum Mol Genet, 4, 1673-1674, 1995 MUT "Le Guern E &: CCG, 65, 261-264, 1994 MUT "Lorenzetti D &: AJHG, 56, 91-98, 1995 LOC "Mariman ECM &: Ann Neurol, 36, 650-655, 1994 LOC "Mariman ECM &: Hum Genet, 92, 87-90, 1993 CLO,SEQ,LOC "Martinotti MA &: Hum Mol Genet, 1, 331-334, 1992 CLO,GEN,LOC,PAT "Matsunami N &: Nature Genet, 1, 176-179, 1992 LOC,LIN "Middleton-Price &: CCG, 51, (HGM10), 1044, 1989 CLO,SEQ "Nayasaka K &: BBRC, 186, 827-831, 1992 MUT "Nelis E &: Hum Genet, 94, 653-657, 1994 MUT "Nicholson GA &: Nature Genet, 6, 263-266, 1994 LOC,LIN,HET "Nicholson GA &: CCG, 51, (HGM10), 1052-1053, 1989 REV,MUT "Patel PI, Lupski JR &: Trends Genet, 10, 128-133, 1994 CLO,GEN,LOC,PAT "Patel PI &: Nature Genet, 1, 159-165, 1992 LOC,LIN "Raeymakers &: CCG, 51, (HGM10), 1062, 1989 MOL,PAT "Reisecker F &: Neurology, 44, 753-755, 1994 MUT "Roa BB &: Nature Genet, 5, 189-194, 1993a MUT "Roa BB &: Nature Genet, 5, 269-273, 1993b MOL,PAT "Silander K &: J Neurol Neurosurg Psychiat, 57, 1260-1262, 1994 HET "Spaans &: Brain, 109, 1149-1168, 1986 MUT "Suter U &: JBC, 269, 25795-25808, 1994 LOC "Takahashi E &: Jpn J Hum Genet, 37, 303-306, 1992 CLO,GEN,LOC,PAT "Timmerman V &: Nature Genet, 1, 171-175, 1992 MOL,PAT "Umehara F &: J Neurol Sci, 133, 173-176, 1995 MUT "Valentijn LJ &: Hum Mut, 5, 76-80, 1995 CLO,GEN,LOC,MUT "Valentijn LJ &: Nature Genet, 2, 288-291, 1992 LOC,LIN "Vance JM &: CCG, 51, (HGM10), 1097-1098, 1989a LOC,LIN "Vance JM &: Exp Neurol, 104, 186-189, 1989b MUT "Verhalle D &: Ann Neurol, 35, 704-708, 1994 |
SWI | SWISSPROT: Q01453 |
KEY | mem, neu, myo |
CLA | coding, basic |
LOC | 17 p11.2 |
MIM | MIM: 601097 |
SYN | CMT1A GAS3 |
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