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

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SWI

SWISSPROT: Q01453

KEY

mem, neu, myo

CLA

coding, basic

LOC

17 p11.2

MIM

MIM: 601097

SYN

CMT1A GAS3

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