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Protein Page:
CYBB (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: EC 1.-.-.-; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: Xp21.1
Cellular Component: endoplasmic reticulum membrane; integral to plasma membrane; NADPH oxidase complex; phagocytic vesicle membrane; plasma membrane
Molecular Function: electron carrier activity; FAD binding; heme binding; protein binding; protein heterodimerization activity; superoxide-generating NADPH oxidase activity
Biological Process: antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; cell redox homeostasis; inflammatory response; innate immune response; respiratory burst; response to reactive oxygen species; superoxide metabolic process; superoxide release; vascular endothelial growth factor receptor signaling pathway
Disease: Granulomatous Disease, Chronic, X-linked; Immunodeficiency 34
Reference #:  P04839 (UniProtKB)
Alt. Names/Synonyms: CGD; CGD91-phox; CY24B; CYBB; Cytochrome b(558) subunit beta; Cytochrome b-245 heavy chain; cytochrome b-245, beta polypeptide; Cytochrome b558 subunit beta; gp91-1; gp91-phox; GP91PHOX; Heme-binding membrane glycoprotein gp91phox; NADPH oxidase 2; Neutrophil cytochrome b 91 kDa polypeptide; NOX2; p22 phagocyte B-cytochrome; p91-PHOX; Superoxide-generating NADPH oxidase heavy chain subunit
Gene Symbols: CYBB
Molecular weight: 65,336 Da
Basal Isoelectric point: 8.9  Predict pI for various phosphorylation states
Select Structure to View Below

CYBB

Protein Structure Not Found.
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