{"symbol":"NDUFS2","synonyms":["CI-49"],"name":"NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)","description":"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]","ncbiEntrezGeneId":4720,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4720","proteins":[{"symbol":"NDUS2_HUMAN","href":"/api/1.0/protein/NDUS2_HUMAN"}],"hgncRootFamilies":[{"name":"Mitochondrial respiratory chain complexes","href":"/api/1.0/gene_family/Mitochondrial+respiratory+chain+complexes"}]}