Aliases for NDUFS2 Gene
- NADH:Ubiquinone Oxidoreductase Core Subunit S2 2 3 5
- NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 2, Mitochondrial 2 3 4
- NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2, 49kDa (NADH-Coenzyme Q Reductase) 2 3
- NADH-Ubiquinone Oxidoreductase 49 KDa Subunit 3 4
- Complex I 49kDa Subunit 2 3
- Complex I-49kD 3 4
- CI-49kD 3 4
External Ids for NDUFS2 Gene
Previous GeneCards Identifiers for NDUFS2 Gene
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]
GeneCards Summary for NDUFS2 Gene
NDUFS2 (NADH:Ubiquinone Oxidoreductase Core Subunit S2) is a Protein Coding gene. Diseases associated with NDUFS2 include Mitochondrial Complex I Deficiency, Nuclear Type 6 and Leber Optic Atrophy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and NADH dehydrogenase (ubiquinone) activity.
UniProtKB/Swiss-Prot Summary for NDUFS2 Gene
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:12611891).