MPZ

Name

myelin protein zero

Type

protein-coding

Aliases

CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP

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].

via MyGene.info

Gene · Ensembl

myelin protein zero

Symbol

MPZ

Biotype

Protein coding

Organism

Homo sapiens

Location

1:161,304,735-161,309,974

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Image

Protein MPZ PDB 1neu.png

via Wikidata · CC0