| ncRNA Symbol: | PMP22 |
| Full Name: | peripheral myelin protein 22 |
| Category: | mRNA |
| Synonyms: | CIDP|CMT1A|CMT1E|DSS|GAS-3|GAS3|HMSNIA|HNPP|Sp110 |
| Chromosome: | chr17 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 15229777 | End Site(bp): | 15265326 | |
| Gene 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] |
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