Alias |
CI 49,CI 49kD,CI-49kD,Complex 1,mitochondrial respiratory chain,49 KD subunit,Complex I 49kD,Complex I 49kDa subunit,Complex I-49kD,NADH dehydrogenase (ubiquinone) Fe S protein 2 49kDa,NADH dehydrogenase (ubiquinone) Fe S protein 2,49kDa (NADH coenzyme Q reductase),NADH dehydrogenase [ubiquinone] iron sulfur protein 2,mitochondrial,NADH dehydrogenase [ubiquinone] iron-sulfur protein 2,NADH ubiquinone oxidoreductase 49 kDa subunit,NADH ubiquinone oxidoreductase NDUFS2 subunit,NADH-ubiquinone oxidoreductase 49 kDa subunit,NADH:ubiquinone oxidoreductase core subunit S2,Ndufs2,NDUS2 |
Background |
The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). 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. |