PMP22
LOCUS ID5376
GENE_SYMBOLPMP22
GENE NAMEperipheral myelin protein 22
SYNONYMNSDSS, GAS3, HNPP, CMT1A, CMT1E, GAS-3, Sp110, HMSNIA
CHROMOSOME17
HOMOLOGENE ID7482
microRNAsNANA
GENE SUMMARY
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

Complication Evidence PMID
Neuropathy1. 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