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Description for Protein MPZ

myelin protein zero
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a major structural protein of peripheral myelin. Mutations in this gene result in the autosomal dominant form of Charcot-Marie-Tooth disease type 1 and other polyneuropathies. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
  • IGV: Immunoglobulin V-Type
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06770
    KEGG - Pathway(s):
    hsa04514
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    MPZ Myelin glycoprotein P zero; P(0); Myelin protein peripheral; MPP; Myelin P0 protein
    Approved Symbol:
    MPZ
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 6
    Human (de-) phosphorylation sites: 6; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Charcot-Marie-tooth disease, dominant intermediate D(Pd);
  • Charcot-Marie-tooth disease, type 1B(Pd);
  • Charcot-Marie-tooth disease, type 1B, with focally folded myelin sheaths(Pd);
  • Charcot-Marie-tooth disease, type 2I(Pd);
  • Charcot-Marie-tooth disease, type 2J(Pd);
  • Dejerine-Sottas syndrome, autosomal dominant(Pd);
  • Dejerine-Sottas syndrome, autosomal recessive(Pd);
  • Dejerine-Sottas syndrome, sporadic(Pd);
  • Neuropathy, congenital hypomyelinating, autosomal dominant(Pd);
  • Roussy-levy syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 01159 Entrez Gene ID: 4359 OMIM ID: 159440 Swissprot Accession: P25189;