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: EC 1.-.-.-; Membrane protein, multi-pass; Mitochondrial; Oxidoreductase; Membrane protein, integral
Cellular Component: integral to plasma membrane; mitochondrion; NADPH oxidase complex; phagocytic vesicle membrane; plasma membrane
Molecular Function: electron carrier activity; FAD binding; heme binding; metal ion binding; protein binding; protein heterodimerization activity; superoxide-generating NADPH oxidase activity; voltage-gated ion channel activity
Biological Process: 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; hydrogen peroxide biosynthetic process; inflammatory response; innate immune response; ion transport; respiratory burst; small GTPase mediated signal transduction; superoxide metabolic process; superoxide release; vascular endothelial growth factor receptor signaling pathway
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.