基因名:
NDUFA12
产品别名:
B17.2; DAP13; MC1DN23; NDUFA12; NADH:ubiquinone oxidoreductase subunit A12; NADH:ubiquinone oxidoreductase subunit A12; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12; 13 kDa differentiation-associated protein; CI-B17.2; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12; NADH-ubiquinone oxidoreductase subunit B17.2; complex I B17.2 subunit; 细胞分化相关蛋白13;
背景信息:
This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]