| PMP22 |
| LOCUS ID | 5376 | ||||||||||
| GENE_SYMBOL | PMP22 | ||||||||||
| GENE NAME | peripheral myelin pr | ||||||||||
| SYNONYMNS | DSS, GAS3, HNPP, CMT1A, CMT1E, GAS-3, Sp110, HMSNIA | ||||||||||
| CHROMOSOME | 17 | ||||||||||
| HOMOLOGENE ID | 7482 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two altertely 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. Altertive splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Neuropathy | 1. One sural nerve biopsy was from a 58-year-old male diabetes mellitus patient with a disproportiotely severe polyneuropathy showing a heterozygous duplication of PMP22. The second biopsy exhibiting a heterozygous deletion of PMP22 was from a 58-year-old female patient with a more axol than demyeliting type of neuropathy without typical tomaculous changes seemingly altered by exogenous, possibly traumatic factors other than diabetes mellitus. | 11045666 |