NADH Dehydrogenase Ubiquinone 1 Alpha Subcomplex Assembly Factor 6 (NDUFaF6)

C8orf38 is a putative phytoene synthase that is important for the function of complex I (CI) of the electron transport chain. The encoded protein localizes to mitochondria. Defects in this gene are a cause of complex I mitochondrial respiratory chain deficiency.The deduced protein is highly conserved in eukaryotes, and its domain structure suggests that it is involved in phytoene metabolism, implicating it in branched-chain lipid metabolism.Knockdown of C8ORF38 in human fibroblasts via RNA interference reduced the abundance and activity of mitochondrial complex I to levels comparable to those seen with knockdown of NDUFAF1, a complex I assembly factor. C8ORF38 is essential for activity and/or assembly of complex I.