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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: CI-49kD; comp; Complex I-49kD; NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; NADH-coenzyme Q reductase; NADH-ubiquinone oxidoreductase 49 kDa subunit
基因别名: AL033311; Ndufs2
UniProt ID: (Mouse) Q3TNA8
Entrez Gene ID: (Mouse) 226646