Aliases for NDUFS2 Gene
- 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
- NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2 (49kD) (NADH-Coenzyme Q Reductase) 2
- Complex 1, Mitochondrial Respiratory Chain, 49-KD Subunit 3
- NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 2 2
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 Dehydrogenase (Ubiquinone) Fe-S Protein 2, 49kDa (NADH-Coenzyme Q Reductase)) is a Protein Coding gene. Diseases associated with NDUFS2 include leigh syndrome with cardiomyopathy and mitochondrial complex i deficiency. Among its related pathways are Metabolism and Alzheimers disease. GO annotations related to this gene include ubiquitin protein ligase binding and NADH dehydrogenase (ubiquinone) activity.
UniProtKB/Swiss-Prot 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 (By similarity).