Homolog, Cytochrome C Oxidase Assembly Protein (COX15) 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 a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]

COX15: May be involved in the biosynthesis of heme A. Defects in COX15 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 COX15 are a cause of Leigh syndrome (LS). An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Belongs to the COX15/CtaA family. 2 isoforms of the human protein are produced by alternative splicing.

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

Chromosomal Location of Human Ortholog: 10q24

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

Molecular Function: cytochrome-c oxidase activity; oxidoreductase activity, acting on the CH-CH group of donors

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

Disease: Leigh Syndrome; Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 2