Aliases for MPZ Gene
External Ids for MPZ Gene
Previous HGNC Symbols for MPZ Gene
Previous GeneCards Identifiers for MPZ 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]
GeneCards Summary for MPZ Gene
MPZ (Myelin Protein Zero) is a Protein Coding gene. Diseases associated with MPZ include Charcot-Marie-Tooth Disease, Demyelinating, Type 1B and Hypertrophic Neuropathy Of Dejerine-Sottas. Among its related pathways are Cell adhesion molecules (CAMs) and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is MPZL1.
UniProtKB/Swiss-Prot Summary for MPZ Gene
Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.