细胞色素c氧化酶10抗体

细胞色素c氧化酶10抗体 Background: Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. COX10 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. Also known as: Heme A farnesyltransferase; Heme O synthase; OTTMUSP00000006085; Protoheme IX farnesyltransferase, mitochondrial precursor; RP23-78H18.1; 2410004F01Rik; AU042636; Cytochrome c oxidase assembly protein; Cytochrome c oxidase subunit X; COX10_HUMAN; Protoheme IX farnesyltransferase, mitochondrial; Heme O synthase; .细胞色素c氧化酶10抗体