2410004F01Rik antibody, AU042636 antibody, im:7145568 antibody, im:7157205 antibody, wu:fb18a03 antibody, F4I1.50 antibody, F4I1_50 antibody, cytochrome c oxidase 10 antibody, Cox10 antibody, cytochrome c oxidase assembly protein 10 antibody, COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor antibody, COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor L homeolog antibody, COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor antibody, cytochrome c oxidase 10 antibody, protoheme IX farnesyltransferase, mitochondrial antibody, Cox10 antibody, cox10 antibody, cox10.L antibody, COX10 antibody, LOC100732273 antibody
背景
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 lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion.