Cytochrome B245 (CYBA) Antibody – Mouse Monoclonal

Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]

CYBA: Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide. Defects in CYBA are a cause of chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD). Chronic granulomatous disease is a genetically heterogeneous disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. Belongs to the p22phox family.

Protein type: Oxidoreductase; Membrane protein, integral; EC 1.-.-.-

Chromosomal Location of Human Ortholog: 16q24

Cellular Component: Golgi apparatus; phagocytic vesicle membrane; membrane; mitochondrion; cell soma; dendrite; apical plasma membrane; plasma membrane; endosome; NADPH oxidase complex; secretory granule

Molecular Function: protein binding; electron carrier activity; protein heterodimerization activity; metal ion binding; superoxide-generating NADPH oxidase activity; heme binding; SH3 domain binding

Biological Process: response to drug; respiratory burst; response to nutrient levels; interaction with host; angiotensin-mediated regulation of glomerular filtration; superoxide metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; positive regulation of cell growth; regulation of release of sequestered calcium ion into cytosol; antigen processing and presentation of peptide antigen via MHC class I; cytochrome complex assembly; antigen processing and presentation of exogenous peptide antigen via MHC class I; innate immune response; positive regulation of endothelial cell proliferation; smooth muscle hypertrophy; inflammatory response; vascular endothelial growth factor receptor signaling pathway; superoxide release; hydrogen peroxide biosynthetic process

Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-negative