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Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000101 Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA. GenEZ ORF Cloning On-demand $399.00 14

*Business Day

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RefSeq Version NM_000101.3, 371941004
Length 778 bp
Structure linear
Update Date 20-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA.
Product cytochrome b-245 light chain
Comment

Summary: Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000092.2
CDS 72..659
Misc Feature(1)42..44
Misc Feature(2)75..656
Misc Feature(3)75..656
Exon (1)1..129
Gene:CYBA
Gene Synonym:p22-PHOX
Exon (2)130..199
Gene:CYBA
Gene Synonym:p22-PHOX
Exon (3)200..274
Gene:CYBA
Gene Synonym:p22-PHOX
Exon (4)275..358
Gene:CYBA
Gene Synonym:p22-PHOX
Exon (5)359..440
Gene:CYBA
Gene Synonym:p22-PHOX
Exon (6)441..723
Gene:CYBA
Gene Synonym:p22-PHOX
Translation MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRK KGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGI YLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPP GGPQVNPIPVTDEVV
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Position Chain Variation Link
complement(2)-dbSNP:
complement(2)-g, adbSNP:72550704
complement(66)-t, cdbSNP:201703733
complement(78)-t, cdbSNP:104894511
complement(107)-t, g, cdbSNP:8053867
complement(140)-dbSNP:
complement(140)-t, cdbSNP:72558348
complement(141)-g, adbSNP:28941476
complement(145)-t, gdbSNP:179363891
complement(156)-g, adbSNP:1804006
complement(184)-t, cdbSNP:1804007
complement(193)-g, adbSNP:11547384
complement(226)-dbSNP:
complement(226)-t, cdbSNP:179363890
complement(229)-t, adbSNP:179363893
complement(244)-t, cdbSNP:200016139
complement(250)-c, adbSNP:11547387
complement(285)-dbSNP:
complement(285)-t, cdbSNP:4673
complement(294)-g, adbSNP:13306293
complement(296)-g, adbSNP:144697580
complement(297)-t, cdbSNP:149344911
complement(308)-g, cdbSNP:2228472
complement(314)-g, adbSNP:11547386
complement(339)-t, cdbSNP:179363892
complement(340)-g, adbSNP:104894513
complement(345)-t, cdbSNP:202179890
complement(352)-g, adbSNP:104894510
complement(359)-dbSNP:
complement(359)-t, cdbSNP:200876803
complement(364)-g, adbSNP:201755210
complement(365)-t, cdbSNP:146079546
complement(425)-t, c, adbSNP:104894514
complement(442)-dbSNP:
complement(442)-t, cdbSNP:179363894
complement(444)-g, adbSNP:119103269
complement(452)-t, cdbSNP:12123
complement(455)-t, cdbSNP:72547285
complement(474)-t, cdbSNP:114610092
complement(524)-g, cdbSNP:113033082
complement(538)-c, adbSNP:104894515
complement(544)-g, adbSNP:13306297
complement(551)-g, adbSNP:72547284
complement(583)-g, adbSNP:72667005
complement(592)-t, cdbSNP:1049254
complement(604..605)-, cdbSNP:144748313
complement(650)-t, gdbSNP:72667006
complement(683)-g, adbSNP:1049255
complement(708)-g, adbSNP:7195830
complement(722)-t, g, cdbSNP:113589413
Gene SymbolCYBA
Gene Synonymp22-PHOX
Chromosome16
Locus Map16q24
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000101 Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA. On-demand $399.00 14
Title Association of the C242T polymorphism in the NADPH oxidase p22 phox gene with carotid atherosclerosis in Slovenian patients with type 2 diabetes .
Author Letonja,M.S., Nikolajevic-Starcevic,J., Batista,D.C., Osredkar,J. and Petrovic,D.
Journal Mol. Biol. Rep. 39 (12), 10121-10130 (2012)
Title Leukotriene B(4) inhibits neutrophil apoptosis via NADPH oxidase activity: redox control of NF-kappaB pathway and mitochondrial stability .
Author Barcellos-de-Souza,P., Canetti,C., Barja-Fidalgo,C. and Arruda,M.A.
Journal Biochim. Biophys. Acta 1823 (10), 1990-1997 (2012)
Title Common single nucleotide polymorphisms of the p22phox NADPH oxidase subunit do not influence aortic stiffness in young, healthy adults .
Author Vlachopoulos,C., Xaplanteris,P., Baou,K., Vassiliadou,C., Dima,I., Ioakeimidis,N. and Stefanadis,C.
Journal Hellenic J Cardiol 53 (5), 352-356 (2012)
Title [Remodeling of the cardiovascular system and development of chronic kidney disease in patients with metabolic syndrome and obesity: role of eNOS, subunit p22-phox of NADPH-oxidase and MTHFR genes] .
Author Saginova,E.A., Galliamov,M.G., Balatskii,A.V., Kolotvin,A.V., Severova,M.V., Samokhodskaia,L.M., Fomin,V.V., Krasnova,T.N. and Mukhin,N.A.
Journal Ter. Arkh. 84 (6), 26-31 (2012)
Title No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients .
Author Weiss,J., Frankl,S.A., Flammer,J., Grieshaber,M.C., Hollo,G., Teuchner,B. and Haefeli,W.E.
Journal Mol. Vis. 18, 2174-2181 (2012)
Title Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox) .
Author de Boer,M., de Klein,A., Hossle,J.P., Seger,R., Corbeel,L., Weening,R.S. and Roos,D.
Journal Am. J. Hum. Genet. 51 (5), 1127-1135 (1992)
Title Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease .
Author Dinauer,M.C., Pierce,E.A., Erickson,R.W., Muhlebach,T.J., Messner,H., Orkin,S.H., Seger,R.A. and Curnutte,J.T.
Journal Proc. Natl. Acad. Sci. U.S.A. 88 (24), 11231-11235 (1991)
Title The alpha subunit of cytochrome b-245 mapped to chromosome 16 .
Author Bu-Ghanim,H.N., Casimir,C.M., Povey,S. and Segal,A.W.
Journal Genomics 8 (3), 568-570 (1990)
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 Characterization of two monoclonal antibodies against cytochrome b558 of human neutrophils .
Author Verhoeven,A.J., Bolscher,B.G., Meerhof,L.J., van Zwieten,R., Keijer,J., Weening,R.S. and Roos,D.
Journal Blood 73 (6), 1686-1694 (1989)


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