Gene Symbol | Ndufa2 |
Entrez Gene ID | 17991 |
Full Name | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 |
Synonyms | AV000592,B8,C1-B8,CI-B8 |
General protein information |
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Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome | |
Summary | This gene encodes a subunit of the NADH-ubiquinone oxidoreductase (complex I) enzyme, which is a large, multimeric protein. It is the first enzyme complex in the mitochondrial electron transport chain and catalyzes the transfer of electrons from NADH to the electron acceptor ubiquinone. The proton gradient created by electron transfer drives the conversion of ADP to ATP. The human ortholog of this gene has been characterized, and its structure and redox potential is reported to be similar to that of thioredoxins. It may be involved in regulating complex I activity or assembly via assistance in redox processes. In humans, mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. A pseudogene of this gene is located on chromosome 5. [provided by RefSeq, May 2013]. |