Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc. Defects in CYBB are a cause of granulomatous disease,chronic, X-linked (CGD). A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life- threatening bacterial/fungal infections. Defects in CYBB are a cause of mycobacteriosis atypical X-linked type 2 (AMCBX2). A rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections. Note: This description may include information from UniProtKB.
Protein type: Mitochondrial; Membrane protein, multi-pass; Oxidoreductase; EC 1.-.-.-; Membrane protein, integral
Cellular Component: phagocytic vesicle membrane; mitochondrion; integral to plasma membrane; plasma membrane; NADPH oxidase complex
Molecular Function: protein binding; FAD binding; electron carrier activity; protein heterodimerization activity; metal ion binding; superoxide-generating NADPH oxidase activity; heme binding; voltage-gated ion channel activity
Biological Process: respiratory burst; interaction with host; superoxide metabolic process; 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; small GTPase mediated signal transduction; innate immune response; antigen processing and presentation of exogenous peptide antigen via MHC class I; ion transport; inflammatory response; vascular endothelial growth factor receptor signaling pathway; superoxide release; hydrogen peroxide biosynthetic process
LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.