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: 49-KD subunit; CI-49; CI-49kD; complex 1; complex 1, mitochondrial respiratory chain, 49-KD subunit; complex I 49kDa subunit; Complex I-49kD; mitochondrial; mitochondrial respiratory chain; NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron-sulfur protein 2; NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; NADH-ubiquinone oxidoreductase 49 kDa subunit; NADH-ubiquinone oxidoreductase NDUFS2 subunit
Gene Aliases: CI-49; NDUFS2
UniProt ID: (Human) O75306
Entrez Gene ID: (Human) 4720