Cytochrome B-245 Beta Poly (CYBbeta) ELISA Kit for Human

Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]

CYBB: 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.

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

Chromosomal Location of Human Ortholog: Xp21.1

Cellular Component: Golgi apparatus; phagocytic vesicle membrane; cell soma; mitochondrion; rough endoplasmic reticulum; integral to plasma membrane; dendrite; plasma membrane; NADPH oxidase complex

Molecular Function: protein binding; electron carrier activity; FAD binding; protein heterodimerization activity; metal ion binding; superoxide-generating NADPH oxidase activity; heme binding; voltage-gated ion channel activity

Biological Process: respiratory burst; response to drug; 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; antigen processing and presentation of exogenous peptide antigen via MHC class I; innate immune response; ion transport; inflammatory response; vascular endothelial growth factor receptor signaling pathway; superoxide release; hydrogen peroxide biosynthetic process; response to nutrient

Disease: Immunodeficiency 34; Granulomatous Disease, Chronic, X-linked