Q9Y375

NDUFAF1 also known as CGI65, CIA30 is 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. NDUFAF1 is required for assembly of complex I, and mutations in NDUFAF1 are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of NDUFAF1 is located on the long arm of chromosome 19.