GTR Home > Genes

PMP22 peripheral myelin protein 22

Also known as: DSS; CIDP; GAS3; HNPP; CMT1A; CMT1E; GAS-3; Sp110; HMSNIA

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]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-12)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
17p12
Sequence:
Chromosome: 17; NC_000017.11 (15229777..15265357, complement)
Total number of exons:
8

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center