Myelin Basic Protein (MBP-Ab) ELISA Kit for Human

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]

myelin P0: a structural protein in peripheral nervous system Schwann cells. Forms an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae. Defects cause of Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, congenital hypomyelination neuropathy, and Roussy-Levy syndrome.

Protein type: Adaptor/scaffold; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1q23.3

Cellular Component: basolateral plasma membrane; integral to plasma membrane; lysosome; myelin sheath; plasma membrane; rough endoplasmic reticulum

Molecular Function: structural molecule activity

Biological Process: intercellular junction maintenance; negative regulation of apoptosis; synaptic transmission

Disease: Charcot-marie-tooth Disease, Axonal, Type 2i; Charcot-marie-tooth Disease, Axonal, Type 2j; Charcot-marie-tooth Disease, Demyelinating, Type 1b; Charcot-marie-tooth Disease, Dominant Intermediate D; Hypertrophic Neuropathy Of Dejerine-sottas; Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive; Roussy-levy Hereditary Areflexic Dystasia