The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene.
NDUFS1; NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase); NADH dehydrogenase (ubiquinone) Fe S protein 1 (75kD) (NADH coenzyme Q reductase); NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; CI 75k; complex I 75kDa subunit; NADH ubiquinone oxidoreductase 75 kDa subunit; mitochondrial; Complex I 75Kd; Complex I, mitochondrial respiratory chain, 75 kD subunit; NADH coenzyme Q reductase; NADH dehydrogenase (ubiquinone) FeS protein 1 (75kD) (NADH coenzyme Q reductase); NADH ubiquinone oxidoreductase 75 kDa subunit mitochondrial; PRO1304; complex I, mitochondrial respiratory chain, 75-kD subunit; mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit; CI-75k; CI-75Kd; MGC26839; NADH dehydrogenase (ubiquinone) Fe-S protein 1; zgc:92209; wu:fb33h05