COX10, Protoheme IX farnesyltransferase, mitochondrial, Heme O synthase
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysdisease:Defects in COX10 are a cause of cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]. COX deficiency is a clinically heterogeneous disorder. The clinical features are ranging from isolated myopathy to severe multisystem disease, with onset from infancy to adulthood.,disease:Defects in COX10 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.,function:Converts protoheme IX and farnesyl diphosphate to heme O.,similarity:Belongs to the ubiA prenyltransferase family.,
