NP_000521.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
34,387 Da
NCBI Official Full Name
myelin protein P0 isoform MPZ
NCBI Official Synonym Full Names
myelin protein zero
NCBI Official Synonym Symbols
P0; CHM; DSS; MPP; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; HMSNIB [Similar Products]
NCBI Protein Information
myelin protein P0
UniProt Protein Name
Myelin protein P0
UniProt Synonym Protein Names
Myelin peripheral protein; MPP; Myelin protein zero
UniProt Synonym Gene Names
UniProt Entry Name
MYP0_HUMAN
NCBI Summary for MPZ
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]
UniProt Comments for MPZ
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
Biological Process: 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
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Products associated with MPZ recombinant protein
Pathways associated with MPZ recombinant protein
Diseases associated with MPZ recombinant protein
Organs/Tissues associated with MPZ recombinant protein
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