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Description for Protein NDUFS7

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
3 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available

Gene Ontology:
Gene Ontology Annotations

KEGG - Enzyme ID(s):
1.6.5.3; 1.6.99.3
KEGG - Orthology:
K03940
KEGG - Pathway(s):
hsa00190; hsa01100; hsa05010; hsa05012; hsa05016
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
NADH Coenzyme Q reductase, 20KD; Complex I, mitochondrial respiratory chain; PSST; My017 protein
Approved Symbol:
NDUFS7
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 3
Human (de-) phosphorylation sites: 3; 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:

  • Leigh syndrome due to mitochondrial complex I deficiency(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 03491 Entrez Gene ID: 374291 OMIM ID: 601825 Swissprot Accession: O75251Q7LD69