CYBB

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

Cytochrome b-245, beta polypeptide
Identifiers
Symbols	CYBB; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
External IDs	OMIM: 300481 MGI: 88574 HomoloGene: 68054 GeneCards: CYBB Gene
Gene Ontology Molecular function • voltage-gated ion channel activity • protein binding • electron carrier activity • superoxide-generating NADPH oxidase activity • superoxide-generating NADPH oxidase activity • oxidoreductase activity • heme binding • metal ion binding • protein heterodimerization activity • flavin adenine dinucleotide binding Cellular component • integral to plasma membrane • membrane • NADPH oxidase complex • NADPH oxidase complex Biological process • superoxide metabolic process • superoxide metabolic process • ion transport • inflammatory response • electron transport chain • superoxide anion generation • superoxide anion generation • innate immune response • innate immune response • respiratory burst • respiratory burst • oxidation-reduction process • oxidation-reduction process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1536	13058
Ensembl	ENSG00000165168	ENSMUSG00000015340
UniProt	P04839	Q3TVP4
RefSeq (mRNA)	NM_000397.3	NM_007807.4
RefSeq (protein)	NP_000388.2	NP_031833.3
Location (UCSC)	Chr X: 37.64 – 37.67 Mb	Chr X: 9.01 – 9.06 Mb
PubMed search	[1]	[2]

Cytochrome b-245, beta polypeptide (chronic granulomatous disease)-- also known as CYBB, P91-PHOX, and NOX2-- 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]

References

1. ^ "Entrez Gene: CYBB cytochrome b-245, beta polypeptide (chronic granulomatous disease)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1536. 

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. doi:10.1016/0008-8749(91)90002-S. 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. doi:10.1172/JCI114898. PMC 296926. PMID 2243141. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=296926. 
• 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. doi:10.1172/JCI114393. PMC 304086. PMID 2556453. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=304086. 
• 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. doi:10.1111/j.1600-0609.1993.tb00634.x. 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. doi:10.1007/BF00201609. 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. doi:10.1073/pnas.91.22.10650. PMC 45079. PMID 7938008. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=45079. 
• 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. doi:10.1007/BF01955051. 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. doi:10.1172/JCI117207. PMC 294341. PMID 8182143. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=294341. 
• 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. doi:10.1093/hmg/4.12.2339. 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. doi:10.1074/jbc.272.14.9141. 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. doi:10.1074/jbc.272.14.9344. 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. doi:10.1111/j.1600-0609.1997.tb00928.x. 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. doi:10.1086/301874. PMC 1377153. PMID 9585602. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377153. 
• 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. doi:10.1203/00006450-199807000-00014. 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. 

External links

• MeSH gp91phox+protein,+human

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