Gene Symbol | PMP22 |
Entrez Gene ID | 5376 |
Full Name | peripheral myelin protein 22 |
Synonyms | CIDP,CMT1A,CMT1E,DSS,GAS-3,GAS3,HMSNIA,HNPP,Sp110 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, type 1A, 118220 (3); Dejerine-Sottas disease, 145900 (3); Neuropathy, recurrent, with pressure palsies, 162500 (3); Charcot-Marie-Tooth disease, type 1E, 118300 (3); Roussy-Levy syndrome, 180800 (3); ?Neuropathy, inflammatory demyelinating, 139393 (3) |