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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]
O00217 [Direct mapping] NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
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Enzymes ENZYME proteins Oxidoreductases Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0003954 [NADH dehydrogenase activity] GO:0005739 [mitochondrion] GO:0005747 [mitochondrial respiratory chain complex I] GO:0005759 [mitochondrial matrix] GO:0006120 [mitochondrial electron transport, NADH to ubiquinone] GO:0006979 [response to oxidative stress] GO:0008137 [NADH dehydrogenase (ubiquinone) activity] GO:0016020 [membrane] GO:0016651 [oxidoreductase activity, acting on NAD(P)H] GO:0022904 [respiratory electron transport chain] GO:0032981 [mitochondrial respiratory chain complex I assembly] GO:0044237 [cellular metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0051539 [4 iron, 4 sulfur cluster binding] GO:0055114 [oxidation-reduction process]
