Entrez gene ID | | 374291 |
Official gene symbol | | NDUFS7 |
Full name | | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) |
Aliases | | ,CI-20,CI-20KD,FLJ45860,FLJ46880,MGC120002,MY017,PSST, |
Gene summary | | This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19p13.3 |
Gene position | | 1383883 - 1395588 Map Viewer |
Gene orientation | | plus |
Gene size | | 11706 bp |
Gene sequence |
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OMIM ID | | 601825 |
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