CYBB (CYBB stands for "cytochrome B-245 beta chain") is a protein-coding gene located on chromosome Xp21.1-p11. Associated signaling pathways include class I MHC-mediated antigen processing and presentation and G-protein signaling RAC1 in cellular processes.
CYBB Gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
Cytochrome b (-245) is composed of the alpha (CYBA) and beta (CYBB) chains. It functions as the major component of the phagocyte microbicidal oxidase system.
CYBB deficiency is one of the five described biochemical defects associated with chronic granulomatous disease (CGD). In this disease, phagocytic NADPH oxidase activity is decreased; neutrophils are able to phagocytose bacteria but cannot kill them in phagocytic vacuoles. The cause of the killing defect is the inability to increase cellular respiration and the consequent inability to deliver activated oxygen to the phagocytic vacuole.
Clinical pictureThis section has been translated automatically.
Diseases associated with CYBB include:
- Immunodeficiency 34
- and
- Chronic granulomatous disease, X-linked (see alsoseptic granulomatosis).
Note(s)This section has been translated automatically.
The encoded protein is an important critical component of the membrane-bound oxidase of phagocytes , which generate superoxide. The protein is the final component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the outside. It also functions as a voltage-gated proton channel mediating the H(+) currents of resting phagocytes and is involved in the regulation of cellular pH. The protein is blocked by zinc.
LiteratureThis section has been translated automatically.
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- Bohler MC et al (1986) A study of 25 patients with chronic granulomatous disease: a new classification by correlating respiratory burst, cytochrome b and flavoprotein. J Clin Immun 6: 136-145.
Bousfiha A et al (2015) The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol 35:727-738.
- Bridges RA et al (1959) A fatal granulomatous disease of childhood: the clinical, pathological, and laboratory features of a new syndrome. AMA J Dis Child 97 387-408.
- Carson MJ et al (1989) Thirteen boys with progressive septic granulomatosis. Pediatrics 35: 405-412.
- Dilworth JA et al.(1977) Adults with chronic granulomatous disease of 'childhood'. Am J Med 63: 233-243.
- Dinauer MC et al (1989) A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. J Clin Invest 84: 2012-2016.
- Landing BH et al.(1957) A syndrome of recurrent infection and infiltration of viscera by pigmented lipid histiocytes. Pediatrics 20: 431-447.
- Lischner HW et al. (1975) Chorioretinal lesions, sea-blue histiocytes and other manifestations in familial chronic granulomatous disease. Birth Defects Orig Art Ser XI(1): 73-76.
- Song SM et al (2014) Identification of a novel mutation in the CYBB gene, p.Asp378Gly, in a patient with X-linked chronic granulomatous disease. Allergy Asthma Immun Res 6: 366-369.
- Southwick FS et al.(1988) Recurrent cystitis and bladder mass in two adults with chronic granulomatous disease. Ann. Intern. Med 109: 118-121.
- Zurro NB et al. (2018) A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease. Pediat Blood Cancer 65: e27382.