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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 05-MAY-2014
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
Misc Feature(4)510..512
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
2+dbSNP:
2+a, gdbSNP:72550704
complement(20)-g, adbSNP:372441702
complement(21)-c, adbSNP:376510042
complement(33)-c, adbSNP:376194264
complement(58)-t, cdbSNP:373406027
complement(66)-t, cdbSNP:201703733
78+c, tdbSNP:104894511
complement(107)-t, g, cdbSNP:8053867
complement(134)-dbSNP:
complement(134)-g, adbSNP:375141871
140..141+c, tdbSNP:72558348
141+a, gdbSNP:28941476
145+g, tdbSNP:179363891
156+a, gdbSNP:1804006
complement(166)-t, cdbSNP:368862873
complement(176)-g, cdbSNP:374776337
184+c, tdbSNP:1804007
193+a, gdbSNP:11547384
complement(206)-dbSNP:
complement(206)-t, cdbSNP:372187837
226+c, tdbSNP:179363890
229+a, tdbSNP:179363893
complement(244)-t, cdbSNP:200016139
complement(250)-c, adbSNP:11547387
285+dbSNP:
285+c, tdbSNP:4673
complement(285)-g, adbSNP:386594564
294+a, gdbSNP:13306293
complement(294)-t, cdbSNP:386527995
complement(296)-g, adbSNP:144697580
complement(297)-t, cdbSNP:149344911
complement(308)-g, cdbSNP:2228472
complement(311)-g, adbSNP:373948664
314+a, gdbSNP:11547386
339+c, tdbSNP:179363892
340+a, gdbSNP:104894513
complement(345)-t, cdbSNP:202179890
352+a, gdbSNP:104894510
complement(354)-g, cdbSNP:372739512
complement(359)-dbSNP:
complement(359)-t, cdbSNP:200876803
complement(364)-g, adbSNP:201755210
complement(365)-t, cdbSNP:146079546
425+a, c, tdbSNP:104894514
442+dbSNP:
442+c, tdbSNP:179363894
444+a, gdbSNP:119103269
452+c, tdbSNP:12123
455+c, tdbSNP:72547285
complement(474)-t, cdbSNP:114610092
complement(524)-g, cdbSNP:113033082
538+a, cdbSNP:104894515
544+a, gdbSNP:13306297
551+a, gdbSNP:72547284
complement(554)-g, adbSNP:376631447
583+a, gdbSNP:72667005
592+c, tdbSNP:1049254
complement(604..605)-, cdbSNP:144748313
650+g, tdbSNP:72667006
683+a, gdbSNP: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 NADPH oxidase subunit p22(phox)-mediated reactive oxygen species contribute to angiogenesis and tumor growth through AKT and ERK1/2 signaling pathways in prostate cancer .
Author Li Q, Fu GB, Zheng JT, He J, Niu XB, Chen QD, Yin Y, Qian X, Xu Q, Wang M, Sun AF, Shu Y, Rui H, Liu LZ and Jiang BH.
Journal Biochim. Biophys. Acta 1833 (12), 3375-3385 (2013)
Title Association of NADPH oxidase p22phox gene C242T, A640G and -930A/G polymorphisms with primary knee osteoarthritis in the Greek population .
Author Lepetsos P, Pampanos A, Lallos S, Kanavakis E, Korres D, Papavassiliou AG and Efstathopoulos N.
Journal Mol. Biol. Rep. 40 (9), 5491-5499 (2013)
Title Evolutionary dynamics of the human NADPH oxidase genes CYBB, CYBA, NCF2, and NCF4: functional implications .
Author Tarazona-Santos E, Machado M, Magalhaes WC, Chen R, Lyon F, Burdett L, Crenshaw A, Fabbri C, Pereira L, Pinto L, Redondo RA, Sestanovich B, Yeager M and Chanock SJ.
Journal Mol. Biol. Evol. 30 (9), 2157-2167 (2013)
Title Association of CYBA rs7195830 polymorphism with estimated glomerular filtration rate in an adult Han sample from Jiangsu province, China .
Author Fan KL, Zhang HF, Zhu ZY, Yao WM, Shen J, Liang NX, Gong L, Yin ZJ, Cao KJ and Li XL.
Journal Chin. Med. J. 126 (17), 3311-3315 (2013)
Title [The p22phox protein and the CYBA gene. Their function and associations with atherosclerosis-related diseases] .
Author Nowak T, Niemiec P and Zak I.
Journal Wiad. Lek. 66 (1), 10-17 (2013)
Title Chronic Granulomatous Disease .
Author Leiding,J.W. and Holland,S.M.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
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 JP, Seger R, Corbeel L, Weening RS 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 MC, Pierce EA, Erickson RW, Muhlebach TJ, Messner H, Orkin SH, Seger RA and Curnutte JT.
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 HN, Casimir CM, Povey S and Segal AW.
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 MC, Pierce EA, Bruns GA, Curnutte JT and Orkin SH.
Journal J. Clin. Invest. 86 (5), 1729-1737 (1990)

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