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The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase. 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.
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Protein Aliases: CI-49kD; comp; complex 1, mitochondrial respiratory chain, 49-KD subunit; complex I 49kDa subunit; Complex I-49kD; NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; NADH-coenzyme Q reductase; NADH-ubiquinone oxidoreductase 49 kDa subunit; NADH-ubiquinone oxidoreductase NDUFS2 subunit; ndufs2 {ECO:0000312|EMBL:AAH82067.1}
Gene Aliases: AL033311; CI-49; NDUFS2
UniProt ID: (Human) O75306, (Mouse) Q91WD5, (Rat) Q641Y2
Entrez Gene ID: (Human) 4720, (Mouse) 226646, (Rat) 289218
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