PMP2 peripheral myelin protein 2

Gene ID: 5375, updated on 5-Mar-2024
Gene type: protein coding
Also known as: P2; MP2; CMT1G; FABP8; M-FABP

Summary

The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Charcot-Marie-Tooth disease, demyelinating, type 1G MedGen: C4748940OMIM: 618279GeneReviews: Not available	See labs
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. GeneReviews: Not available

Genomic context

Location:: 8q21.13

Sequence:: Chromosome: 8; NC_000008.11 (81440326..81447439, complement)

Total number of exons:: 4

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PMP2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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