COX10: Proteins and Enzymes

Cytochrome c oxidase assembly homolog 10 (COX10), also known as protoheme IX farnesyltransferase, mitochondrial, is a member of the UbiA prenyltransferase family. This protein converts protoheme 9 (IX) and farnexyl diphosphate to heme O. COX10 is required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. Mutations to the COX10 gene have been linked to cytochrome c oxidase deficiency also known as mitochondrial complex IV deficiency (MT-D4D), Charcot-Marie-Tooth type 1A (CMT1A) duplication, and hereditary neuropathy with liability to pressure palsies (HNPP) deletion. Leigh syndrome has also been associated with defects in the COX10 gene where bilateral symmetrical necrotic lesions appear in the subcortical brain regions.