ADCK3

ADCK3, also known as COQ8A or CABC1, is the best-characterized member of the AarF-domain kinase family and a dedicated regulator of Coenzyme Q10 biosynthesis in the mitochondrial inner membrane. Loss-of-function mutations in ADCK3 cause autosomal recessive cerebellar ataxia with CoQ10 deficiency (ARCA2), one of the few potentially treatable mitochondrial ataxias, since CoQ10 supplementation benefits some patients. Biochemical studies indicate the protein supports the coenzyme Q synthome, with atypical kinase activity acting on coenzyme Q pathway components. Recombinant ADCK3 is central to mechanistic studies of CoQ10 biosynthesis and to understanding ataxia-associated variants.