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Symbol MPZ contributors: mct/npt - updated : 10-05-2016
HGNC name myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
HGNC id 7225
Corresponding disease
CMT1B Charcot-Marie-Tooth disease, demyelating, type 1B
CMT2I Charcot-Marie-Tooth disease, axonal, type 2I
CMT2J Charcot-Marie-Tooth neuropathy, type 2J
CMT3A hypomyelination neuropathy, congenital
CMTDID Charcot-Marie-Tooth, dominant intermediate D
Location 1q23.3      Physical location : 161.274.526 - 161.279.762
Synonym name
  • myelin P0 protein
  • myelin peripheral protein
  • Synonym symbol(s) P0, DSS, MPP, CHM, CMT1, HMSNIB, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3
    DNA
    TYPE functioning gene
    STRUCTURE 5.24 kb     6 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • variant within the first intron of MPZ that resides within a previously described SOX10 binding site is associated with decreased enhancer activity, and alters binding of nuclear proteins
  • MAPPING cloned Y linked Y status confirmed
    Map cen - MUC1 - SPTA1 - FCGR2B - qter
    Authors Oakey (92)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1980 30 248 - 2012 22457349
  • MPZ, also known as P0
  • 29-aa signal sequence
  • mature P0 protein (219 aa) is N-glycosylated
  • is important for the function of the PNS, and a large number of P0 mutations cause hereditary motor sensory neuropathies
  • - - 1970 35 312 - 2012 22457349
  • L-MPZ
  • derived from P0 mRNA by stop codon readthrough
  • contains an additional domain at the C terminus
  • has an extra 63 aa at the C terminus of P0, which are located in the cytoplasm
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   highly
    Nervousbrain   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentralwhite matter  
    Nervousperipherous    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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