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PMP22 peripheral myelin protein 22

Gene ID: 5376, updated on 28-Oct-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Charcot-Marie-Tooth disease type 1E
MedGen: C3495591OMIM: 118300GeneReviews: Not available
See labs
Charcot-Marie-Tooth disease, type IA
MedGen: C0270911OMIM: 118220GeneReviews: Not available
See labs
Dejerine-Sottas disease
MedGen: C0011195OMIM: 145900GeneReviews: Not available
See labs
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
GeneReviews: Not available
Guillain-Barre syndrome, familial
MedGen: C4083008OMIM: 139393GeneReviews: Not available
See labs
Hereditary liability to pressure palsiesSee labs
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
GeneReviews: Not available
Roussy-Levy syndrome
MedGen: C0205713OMIM: 180800GeneReviews: Not available
See labs

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 (15229779..15265326, complement)
Total number of exons:
7

Links

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