MPZ, Official Symbol MPZprovided by HGNC Official Full Name myelin protein zeroprovided by HGNC Primary source HGNC:HGNC:7225 See related Ensembl:ENSG00000158887 MIM:159440; AllianceGenome:HGNC:7225 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Broad expression in fat (RPKM 6.2), prostate (RPKM 4.2) and 20 other tissues See more Orthologs mouse all