基因名:
NDUFA2
产品别名:
B8; CD14; CIB8; MC1DN13; NDUFA2; NADH:ubiquinone oxidoreductase subunit A2; NADH:ubiquinone oxidoreductase subunit A2; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa; NADH-ubiquinone oxidoreductase subunit CI-B8; complex I B8 subunit; NADH氧化还原酶辅酶2;
背景信息:
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]