Rabbit anti-Human MPZ Polyclonal Antibody

Uniprot Id

P25189

Target Species

Human

Target Name

MPZ

Target Full Name

Myelin protein P0

Target Function

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.

Target Involvement

Charcot-Marie-Tooth disease 1B (CMT1B); Charcot-Marie-Tooth disease 2I (CMT2I); Charcot-Marie-Tooth disease 2J (CMT2J); Adie pupil (ADIEP); Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID); Dejerine-Sottas syndrome (DSS); Neuropathy, congenital hypomyelinating or amyelinating (CHN); Roussy-Levy syndrome (ROULS)

Target Subcellular Location

Cell membrane; Single-pass type I membrane protein.; [Isoform L-MPZ]: Myelin membrane; Single-pass type I membrane protein.

Target Protein Families

Myelin P0 protein family

Target Tissue Specificity

Found only in peripheral nervous system Schwann cells.

Target Research Area

Neuroscience

Target Synonyms

Charcot Marie Tooth neuropathy 1B; CHM; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; MPZ; Myelin peripheral protein; Myelin protein P0; Myelin protein zero; MYP0_HUMAN; P0

Target Background

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.