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MPZ myelin protein zero

Gene ID: 4359, updated on 4-Feb-2024
Gene type: protein coding
Also known as: P0; CHM; DSS; MPP; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; HMSNIB

Summary

This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Charcot-Marie-Tooth disease dominant intermediate D
MedGen: C1843075OMIM: 607791GeneReviews: Not available
See labs
Charcot-Marie-Tooth disease type 1BSee labs
Charcot-Marie-Tooth disease type 2I
MedGen: C3888087OMIM: 607677GeneReviews: Not available
See labs
Charcot-Marie-Tooth disease type 2J
MedGen: C1843153OMIM: 607736GeneReviews: Not available
See labs
Dejerine-Sottas disease
MedGen: C0011195OMIM: 145900GeneReviews: Not available
See labs
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Neuropathy, congenital hypomyelinating, 2
MedGen: C4722277OMIM: 618184GeneReviews: Not available
See labs
Roussy-Levy syndrome
MedGen: C0205713OMIM: 180800GeneReviews: Not available
See labs

Genomic context

Location:
1q23.3
Sequence:
Chromosome: 1; NC_000001.11 (161303600..161309968, complement)
Total number of exons:
7

Links

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