CYBB Gene

Last updated on: 02.04.2022

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DefinitionThis section has been translated automatically.

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.

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:

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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  3. Bousfiha A et al (2015) The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol 35:727-738.

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  8. Landing BH et al.(1957) A syndrome of recurrent infection and infiltration of viscera by pigmented lipid histiocytes. Pediatrics 20: 431-447.
  9. 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.
  10. 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.
  11. Southwick FS et al.(1988) Recurrent cystitis and bladder mass in two adults with chronic granulomatous disease. Ann. Intern. Med 109: 118-121.
  12. 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.

Last updated on: 02.04.2022