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Description for Protein MPV17

MpV17 mitochondrial inner membrane protein
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K13348
    KEGG - Pathway(s):
    hsa04146
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    -
    Approved Symbol:
    MPV17
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • Mitochondrial dna depletion syndrome, hepatocerebral form(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 08847 Entrez Gene ID: 4358 OMIM ID: 137960 Swissprot Accession: P39210;