基因名：
NDUFAF1
产品别名：
CGI-65； CGI65； CIA30； MC1DN11； NDUFAF1； NADH:ubiquinone oxidoreductase complex assembly factor 1； NADH:ubiquinone oxidoreductase complex assembly factor 1； complex I intermediate-associated protein 30, mitochondrial； NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1； NADH dehydrogenase (ubiquinone) complex I, assembly factor 1； NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1； NDUFAF1蛋白；
背景信息：
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
