Gene Symbol | MPZ |
Entrez Gene ID | 4359 |
Full Name | myelin protein zero |
Synonyms | CHM,CMT1,CMT1B,CMT2I,CMT2J,CMT4E,CMTDI3,CMTDID,DSS,HMSNIB,MPP,P0 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, type 1B, 118200 (3); Dejerine-Sottas disease, 145900 (3); Neuropathy, congenital hypomyelinating, 605253 (3); Charcot-Marie-Tooth disease, type 2J, 607736 (3); Roussy-Levy syndrome, 180800 (3); Charcot-Marie-Tooth disease, type 2I, 607677 (3); Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3) |