PMP22 peripheral myelin protein 22
Gene ID: 5376, updated on 2-Nov-2024Gene type: protein coding
Also known as: DSS; CIDP; GAS3; HNPP; CMT1A; CMT1E; GAS-3; Sp110; HMSNIA
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- Go to complete Gene record for PMP22
- Go to Variation Viewer for PMP22 variants
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
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease type 1E | not available |
| Charcot-Marie-Tooth disease, type IA | not available |
| Dejerine-Sottas disease | not available |
| Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. GeneReviews: Not available | |
| Guillain-Barre syndrome, familial | not available |
| Hereditary liability to pressure palsies | not available |
| Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. GeneReviews: Not available | |
| Roussy-Levy syndrome | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-07-12) ClinGen Genome Curation PageHaploinsufficency 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
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PMP22 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IPN Mutations, PMP22
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PMP22 homepage - Leiden Muscular Dystrophy pages
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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