CYBB

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This article is about a human gene. For the airport in Canada, see Kugaaruk Airport.

Cytochrome b-245, beta polypeptide (chronic granulomatous disease)

Identifiers

CYBB; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2

External IDs

OMIM: 300481 MGI: 88574 HomoloGene: 68054

Gene ontology
Molecular Function:	• voltage-gated ion channel activity • iron ion binding • oxidoreductase activity • metal ion binding • FAD binding
Cellular Component:	• cytoplasm • plasma membrane • integral to plasma membrane
Biological Process:	• electron transport • ion transport • inflammatory response • antimicrobial humoral response

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000397 (mRNA)
NP_000388 (protein)

NM_007807 (mRNA)
NP_031833 (protein)

Location

Chr X: 37.52 - 37.56 Mb

Chr X: 8.59 - 8.63 Mb

Pubmed search

[1]

[2]

Cytochrome b-245, beta polypeptide (chronic granulomatous disease), also known as CYBB and P91-PHOX, is a human gene encoding a glycoprotein.

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.^[1]

[edit] References

^ Entrez Gene: CYBB cytochrome b-245, beta polypeptide (chronic granulomatous disease).

[edit] Further reading

Bolscher BG, de Boer M, de Klein A, et al. (1991). "Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.". Blood 77 (11): 2482–7. PMID 1710153.
Nong Y, Kandil O, Tobin EH, et al. (1991). "The HIV core protein p24 inhibits interferon-gamma-induced increase of HLA-DR and cytochrome b heavy chain mRNA levels in the human monocyte-like cell line THP1.". Cell. Immunol. 132 (1): 10–6. PMID 1905983.
Dinauer MC, Pierce EA, Bruns GA, et al. (1990). "Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.". J. Clin. Invest. 86 (5): 1729–37. PMID 2243141.
Royer-Pokora B, Kunkel LM, Monaco AP, et al. (1986). "Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.". Nature 322 (6074): 32–8. doi:10.1038/322032a0. PMID 2425263.
Dinauer MC, Curnutte JT, Rosen H, Orkin SH (1990). "A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.". J. Clin. Invest. 84 (6): 2012–6. PMID 2556453.
Dinauer MC, Orkin SH, Brown R, et al. (1987). "The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex.". Nature 327 (6124): 717–20. doi:10.1038/327717a0. PMID 3600768.
Teahan C, Rowe P, Parker P, et al. (1987). "The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245.". Nature 327 (6124): 720–1. doi:10.1038/327720a0. PMID 3600769.
Rabbani H, de Boer M, Ahlin A, et al. (1994). "A 40-base-pair duplication in the gp91-phox gene leading to X-linked chronic granulomatous disease.". Eur. J. Haematol. 51 (4): 218–22. PMID 7694872.
Pollock JD, Williams DA, Gifford MA, et al. (1995). "Mouse model of X-linked chronic granulomatous disease, an inherited defect in phagocyte superoxide production.". Nat. Genet. 9 (2): 202–9. doi:10.1038/ng0295-202. PMID 7719350.
Ariga T, Sakiyama Y, Matsumoto S (1994). "Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease.". Hum. Genet. 94 (4): 441. PMID 7927345.
Leto TL, Adams AG, de Mendez I (1994). "Assembly of the phagocyte NADPH oxidase: binding of Src homology 3 domains to proline-rich targets.". Proc. Natl. Acad. Sci. U.S.A. 91 (22): 10650–4. PMID 7938008.
Ariga T, Sakiyama Y, Tomizawa K, et al. (1993). "A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.". Eur. J. Pediatr. 152 (6): 469–72. PMID 8101486.
Leusen JH, de Boer M, Bolscher BG, et al. (1994). "A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.". J. Clin. Invest. 93 (5): 2120–6. PMID 8182143.
Meindl A, Carvalho MR, Herrmann K, et al. (1996). "A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa.". Hum. Mol. Genet. 4 (12): 2339–46. PMID 8634708.
Sathyamoorthy M, de Mendez I, Adams AG, Leto TL (1997). "p40(phox) down-regulates NADPH oxidase activity through interactions with its SH3 domain.". J. Biol. Chem. 272 (14): 9141–6. PMID 9083043.
Eklund EA, Kakar R (1997). "Identification and characterization of TF1(phox), a DNA-binding protein that increases expression of gp91(phox) in PLB985 myeloid leukemia cells.". J. Biol. Chem. 272 (14): 9344–55. PMID 9083071.
Jendrossek V, Ritzel A, Neubauer B, et al. (1997). "An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.". Eur. J. Haematol. 58 (2): 78–85. PMID 9111587.
Rae J, Newburger PE, Dinauer MC, et al. (1998). "X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.". Am. J. Hum. Genet. 62 (6): 1320–31. PMID 9585602.
Ariga T, Furuta H, Cho K, Sakiyama Y (1998). "Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.". Pediatr. Res. 44 (1): 85–92. PMID 9667376.
Kumatori A, Faizunnessa NN, Suzuki S, et al. (1998). "Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.". Genomics 53 (2): 123–8. doi:10.1006/geno.1998.5510. PMID 9790760.