Aliases

• CHM
• CMT1
• CMT1B
• CMT2I
• CMT2J
• CMT4E
• CMTDI3
• CMTDID
• Charcot-Marie-Tooth neuropathy 1B
• DSS
• HMSNIB
• MPP
• MPZ
• Myelin peripheral protein
• Myelin protein zero
• P0
• myelin peripheral protein
• myelin protein P0
• myelin protein zero

Description

From NCBI Gene: 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]

Attributes

QA State

Under Review

Type

Gene

HGNC Name

MPZ