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; EC 1.-.-.-; Membrane protein, integral
Chromosomal Location of Human Ortholog: 16q24
Cellular Component: Golgi apparatus; phagocytic vesicle membrane; cell soma; mitochondrion; membrane; apical plasma membrane; dendrite; plasma membrane; endosome; NADPH oxidase complex; secretory granule
Molecular Function: protein binding; electron carrier activity; protein heterodimerization activity; superoxide-generating NADPH oxidase activity; metal ion binding; heme binding; SH3 domain binding
Biological Process: respiratory burst; response to drug; 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; innate immune response; antigen processing and presentation of exogenous peptide antigen via MHC class I; positive regulation of endothelial cell proliferation; smooth muscle hypertrophy; vascular endothelial growth factor receptor signaling pathway; inflammatory response; superoxide release; hydrogen peroxide biosynthetic process
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-negative
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