NADH Dehydrogenase Ubiquinone 1 Alpha Subcomplex Assembly Factor 1 (NDUFaF1)

The NDUFAF1 gene encodes the human homolog of a Neurospora crassa Cia30 protein involved in the assembly of complex I.The 327-amino acid protein contains an N-terminal mitochondrial targeting sequence and 2 possible cAMP- and cGMP-dependent protein kinase phosphorylation sites.

The protein is moderately conserved among species, with highest homology in the C-terminal region. Human and mouse CIA30 proteins share nearly 80% identity. An autoradiogram of a human multiple tissue expression array hybridized with a radiolabeled CIA30 cDNA probe showed ubiquitous expression. Slightly higher expression was observed in various heart tissues, kidney, lung, and liver.