COX10 Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2008]

COX10: Converts protoheme IX and farnesyl diphosphate to heme O. Defects in COX10 are a cause of mitochondrial complex IV deficiency (MT-C4D); also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome. Defects in COX10 are a cause of Leigh syndrome (LS). LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions. Belongs to the UbiA prenyltransferase family.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Energy Metabolism - oxidative phosphorylation; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; EC 2.5.1.-; Transferase

Chromosomal Location of Human Ortholog: 17p12

Cellular Component: integral to membrane; mitochondrial inner membrane; mitochondrion

Molecular Function: cytochrome-c oxidase activity; farnesyltranstransferase activity; protoheme IX farnesyltransferase activity

Biological Process: aerobic respiration; cellular respiration; heme a biosynthetic process; heme biosynthetic process; heme o biosynthetic process; mitochondrial electron transport, cytochrome c to oxygen; mitochondrial fission; porphyrin metabolic process; respiratory chain complex IV assembly

Disease: Leigh Syndrome; Mitochondrial Complex Iv Deficiency