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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
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)
    Physical map
    CD244 1q23.1 CD244 natural killer cell receptor 2B4 ITLN1 1q21.3 intelectin 1 (galactofuranose binding) LOC284679 1q23.1 similar to spermine synthase; spermidine aminopropyltransferase ITLN2 1q22-q23.5 intelectin 2 F11R 1q21.2-q21.3 F11 receptor USF1 1q22-q23 upstream transcription factor 1 LOC388708 1 similar to KAT protein LOC257106 1q23.1 hypothetical protein LOC257106 LNIR MGC33338 1q23.1 hypothetical protein MGC33338 PFDN2 1q23.1 prefoldin 2 NIT1 1q21-q22 nitrilase 1 DEDD 1q21.3 death effector domain containing HSPC155 1q23.1 hypothetical protein HSPC155 USP21 1q22 ubiquitin specific protease 21 PPOX 1q22 protoporphyrinogen oxidase B4GALT3 1q21-q23 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 ADAMTS4 1q23 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4 NDUFS2 1q23 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) FCER1G 1q23 Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide APOA2 1q21-q23 apolipoprotein A-II FLJ12770 1q23.1 hypothetical protein FLJ12770 NR1I3 1q23.1 nuclear receptor subfamily 1, group I, member 3 MPZ 1q22 myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) SDHC 1q21 succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa LOC257177 1q23.1 similar to hypothetical protein MGC20470 LOC148430 1q23.1 similar to ribosomal protein S2; 40S ribosomal protein S2 LOC388709 1 LOC388709 LOC388710 1 LOC388710 FCGR2A 1q23 Fc fragment of IgG, low affinity IIa, receptor for (CD32) HSPA6 1q heat shock 70kDa protein 6 (HSP70B') FCGR3A 1q23 Fc fragment of IgG, low affinity IIIa, receptor for (CD16) FCGR3B 1q23 Fc fragment of IgG, low affinity IIIb, receptor for (CD16)
    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
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS