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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.
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| Protein type: EC 1.-.-.-; Oxidoreductase; Membrane protein, integral; Mitochondrial |
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Cellular Component: phagocytic vesicle membrane; mitochondrion; integral to plasma membrane; NADPH oxidase complex
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Molecular Function: protein binding; electron carrier activity; FAD binding; protein heterodimerization activity; superoxide-generating NADPH oxidase activity; metal ion binding; heme binding; voltage-gated ion channel activity
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Biological Process: respiratory burst; interaction with host; antigen processing and presentation of peptide antigen via MHC class I; superoxide metabolic 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; innate immune response; inflammatory response; superoxide release; hydrogen peroxide biosynthetic process
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Reference #:
P04839 (UniProtKB)
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| 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 |
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Molecular weight: 65,336 Da
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Basal Isoelectric point: 8.9
Predict pI for various phosphorylation states
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