This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]
Function
4 iron, 4 sulfur cluster binding; contributes_to NADH dehydrogenase (ubiquinone) activity; NADH dehydrogenase (ubiquinone) activity; contributes_to NADH dehydrogenase activity; electron carrier activity; metal ion binding; oxidoreductase activity;
Synonyms
NDUFS8; NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase); NADH dehydrogenase (ubiquinone) Fe S protein 8 (23kD) (NADH coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial; CI 23k; complex I 23kDa subunit; NADH dehydrogenase [ubiquinone] iron sulfur protein 8; mitochondrial; TYKY; complex I-23kD; NADH-ubiquinone oxidoreductase 23 kDa subunit; CI-23k; CI23KD;
Citations
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Triepels, RH; Hanson, BJ; et al. Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns. JOURNAL OF BIOLOGICAL CHEMISTRY 276:8892-8897(2001).
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