NDUFS2, Official Symbol NDUFS2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase core subunit S2provided by HGNC Primary source HGNC:HGNC:7708 See related Ensembl:ENSG00000158864 MIM:602985; AllianceGenome:HGNC:7708 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CI-49; MC1DN6 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.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in heart (RPKM 60.3), kidney (RPKM 35.6) and 25 other tissues See more Orthologs mouse all