Gene: NDUFS2
Alternate names for this Gene: CI-49|MC1DN6
Gene Summary: 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.
Gene is located in Chromosome: 1
Location in Chromosome : 1q23.3
Description of this Gene: NADH:ubiquinone oxidoreductase core subunit S2
Type of Gene: protein-coding