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Description for Protein NDUFS2

NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(platelet: 3)
Summary:
The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.6.5.3; 1.6.99.3
    KEGG - Orthology:
    K03935
    KEGG - Pathway(s):
    hsa00190; hsa01100; hsa05010; hsa05012; hsa05016
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Complex I-49KD; CI-49KD; NADH-ubiquinone oxidoreductase 49 kDa subunit, mitochondrial
    Approved Symbol:
    NDUFS2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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):

  • NADH(db)

    Associated Genetic Diseases:

  • Mitochondrial complex I deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04285 Entrez Gene ID: 4720 OMIM ID: 602985 Swissprot Accession: O75306; B7Z792;