Sequence in raw or FASTA format:
Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.
| RefSeq Version | NM_000397.3, 163854302 |
| Length | 4353 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA. |
| Product | cytochrome b-245 heavy chain |
| Comment | Summary: 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. [provided by RefSeq]. |
| RefSeq | NP_000388.2 |
| CDS | 62..1774 | Exon (1) | 1..106 | Exon (2) | 1..106 | Exon (3) | 107..202 | Exon (4) | 203..313 | Exon (5) | 314..398 | Exon (6) | 399..544 | Exon (7) | 545..735 | Exon (8) | 736..865 | Exon (9) | 866..958 | Exon (10) | 959..1212 | Exon (11) | 1213..1375 | Exon (12) | 1376..1522 | Exon (13) | 1523..1647 | Exon (14) | 1648..4318 |
| Translation | MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACL
NFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHL
FNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGV
VITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHN
ITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKV
VTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGD
WTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASIL
KSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYL
TGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPE
ALAETLSKQSISNSESGPRGVHFIFNKENF
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| Position | Chain | Variation | Link |
| 715 | + | a, c | dbSNP:35080474 |
| 1063 | + | a, g | dbSNP:2228117 |
| 1475 | + | a, g | dbSNP:13306300 |
| 2231 | + | a, g | dbSNP:34407298 |
| 2333 | + | g, t | dbSNP:5964151 |
| 2635 | + | a, g | dbSNP:17146280 |
| 3206 | + | a, g | dbSNP:34920432 |
| 3312 | + | , a | dbSNP:35782029 |
| 3419 | + | a, g | dbSNP:35278070 |
| 3447 | + | c, t | dbSNP:34380982 |
| 3533 | + | c, t | dbSNP:41303695 |
| 3615 | + | c, t | dbSNP:35621886 |
| 4064 | + | a, g | dbSNP:79650864 |
| 4066 | + | , t | dbSNP:11354976 |
| 4069 | + | c, t | dbSNP:74486909 |
| 4077 | + | , t | dbSNP:11338914 |
| 4088 | + | , t | dbSNP:34937980 |
| 4089..4090 | + | , tt | dbSNP:71817402 |
| Gene Symbol | CYBB |
| Gene Synonym | CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX |
| Chromosome | X |
| Locus Map | Xp21.1 |
| All Transcripts | NM_000397 |
| Title | Inherited human gp91phox deficiency is associated with impaired isoprostane formation and platelet dysfunction . |
| Author | Pignatelli,P., Carnevale,R., Di Santo,S., Bartimoccia,S., Sanguigni,V., Lenti,L., Finocchi,A., Mendolicchio,L., Soresina,A.R., Plebani,A. and Violi,F. |
| Journal | Arterioscler. Thromb. Vasc. Biol. 31 (2), 423-434 (2011) |
| Title | Akt/Nox2/NF-kappaB signaling pathway is involved in Tat-induced HIV-1 long terminal repeat (LTR) transactivation . |
| Author | Zhang,H.S., Sang,W.W., Ruan,Z. and Wang,Y.O. |
| Journal | Arch. Biochem. Biophys. 505 (2), 266-272 (2011) |
| Title | Regulation of NADPH oxidase (Nox2) by lipid rafts in breast carcinoma cells . |
| Author | Rao Malla,R., Raghu,H. and Rao,J.S. |
| Journal | Int. J. Oncol. 37 (6), 1483-1493 (2010) |
| Title | Induction of regulatory T cells by macrophages is dependent on production of reactive oxygen species . |
| Author | Kraaij,M.D., Savage,N.D., van der Kooij,S.W., Koekkoek,K., Wang,J., van den Berg,J.M., Ottenhoff,T.H., Kuijpers,T.W., Holmdahl,R., van Kooten,C. and Gelderman,K.A. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 107 (41), 17686-17691 (2010) |
| Title | Molecular and functional characterization of Hv1 proton channel in human granulocytes . |
| Author | Petheo,G.L., Orient,A., Barath,M., Kovacs,I., Rethi,B., Lanyi,A., Rajki,A., Rajnavolgyi,E. and Geiszt,M. |
| Journal | PLoS ONE 5 (11), E14081 (2010) |
| Title | Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease . |
| Author | Bolscher,B.G., de Boer,M., de Klein,A., Weening,R.S. and Roos,D. |
| Journal | Blood 77 (11), 2482-2487 (1991) |
| Title | 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 . |
| Author | Nong,Y., Kandil,O., Tobin,E.H., Rose,R.M. and Remold,H.G. |
| Journal | Cell. Immunol. 132 (1), 10-16 (1991) |
| Title | Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease . |
| Author | Dinauer,M.C., Pierce,E.A., Bruns,G.A., Curnutte,J.T. and Orkin,S.H. |
| Journal | J. Clin. Invest. 86 (5), 1729-1737 (1990) |
| Title | A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease . |
| Author | Dinauer,M.C., Curnutte,J.T., Rosen,H. and Orkin,S.H. |
| Journal | J. Clin. Invest. 84 (6), 2012-2016 (1989) |
| Title | Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location . |
| Author | Royer-Pokora,B., Kunkel,L.M., Monaco,A.P., Goff,S.C., Newburger,P.E., Baehner,R.L., Cole,F.S., Curnutte,J.T. and Orkin,S.H. |
| Journal | Nature 322 (6074), 32-38 (1986) |
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