COX10 Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 17p12

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

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

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

Disease: Leigh Syndrome; Mitochondrial Complex Iv Deficiency