NADH Dehydrogenase Ubiquinone 1 Alpha Subcomplex Assembly Factor 5 (NDUFaF5)

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. Knockdown of C20ORF7 decreased complex I activity and that C20ORF7 is involved in the assembly or stability of an early complex I assembly intermediate that contains the ND1 subunit. In vitro transcription and translation studies showed that the full-length 39-kD protein associated with mitochondria.