Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MPZ contributors: mct/npt - updated : 10-05-2016
HGNC name myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
HGNC id 7225
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a cytoplasmic domain undergoing phosphorylation on several serine residues and a tyrosine group that is maximal during peak nerve myelination
  • a large extracellular domain containing a Ig-V type, a single 124 amino acid immunoglobulin-like domain
  • a single 26AA transmembrane segment
  • a short intracytoplasmic C terminal tail
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Mpz
    ortholog to rattus Mpz
    Homologene
    FAMILY
  • myelin P0 protein family
    • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,lysosome
    text
  • integral to plasma membrane
  • type I membrane protein
  • localized at cell-cell adhesion sites in the plasma membrane
    • basic FUNCTION
  • involved in formation and maintenance of compact myelin
  • playing a role in the creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae
  • critical structural component of myelin in the peripheral nervous system
  • the main function of MPZ is the formation and stabilization of the multilamellar membrane structure of compact myelin
  • while PLP1 can co-exist with MPZ in peripheral nervous system (PNS) myelin, PLP1 cannot replace MPZ as the major structural protein of PNS myelin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS nervous system
    PATHWAY
    metabolism
    signaling neurotransmission
  • synaptic transmission
    • a component
  • forming complexes with PMP22
  • N-glycan sulfated
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulated, in part, by the transcription factors SOX10 and EGR2
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT1B , CMT3A , CMT2J , CMT2I , CMTDID
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS