CYBA Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 16q24

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

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

Biological Process: angiotensin-mediated regulation of glomerular filtration; antigen processing and presentation of exogenous peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I; cell redox homeostasis; cytochrome complex assembly; hydrogen peroxide biosynthetic process; inflammatory response; innate immune response; positive regulation of cell growth; positive regulation of endothelial cell proliferation; positive regulation of interleukin-6 production; positive regulation of phagocytosis; positive regulation of smooth muscle cell proliferation; positive regulation of superoxide release; positive regulation of toll-like receptor 2 signaling pathway; positive regulation of tumor necrosis factor production; regulation of release of sequestered calcium ion into cytosol; respiratory burst; response to drug; response to nutrient levels; small GTPase mediated signal transduction; smooth muscle hypertrophy; superoxide metabolic process; superoxide release; vascular endothelial growth factor receptor signaling pathway

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