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


RefSeq Accession Definition Sequence Price Select
NM_000101 Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA. Full Lenth $215.47
ORF Sequence $170.52


RefSeq Version NM_000101.2, 68509913
Length 743 bp
Structure linear
Update Date 13-MAR-2011
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].

RefSeq NP_000092.2
CDS 37..624
Exon (1)1..94
Exon (2)1..94
Exon (3)95..164
Exon (4)165..239
Exon (5)240..323
Exon (6)324..405
Exon (7)406..688
Translation MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRK KGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGI YLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPP GGPQVNPIPVTDEVV
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Position Chain Variation Link
43+c, tdbSNP:104894511
complement(72)-t, g, cdbSNP:8053867
105+c, tdbSNP:72558348
106+a, gdbSNP:28941476
121+a, gdbSNP:1804006
149+c, tdbSNP:1804007
158+a, gdbSNP:11547384
215+a, cdbSNP:11547387
250+c, tdbSNP:4673
259+a, gdbSNP:13306293
273+c, gdbSNP:2228472
279+a, gdbSNP:11547386
305+a, gdbSNP:104894513
317+a, gdbSNP:104894510
390+a, cdbSNP:104894514
complement(405)-, largedeletiondbSNP:71873013
409+a, gdbSNP:119103269
417+c, tdbSNP:12123
420+c, tdbSNP:72547285
complement(439)-t, cdbSNP:114610092
complement(489)-g, cdbSNP:113033082
503+a, cdbSNP:104894515
509+a, gdbSNP:13306297
516+a, gdbSNP:72547284
548+a, gdbSNP:72667005
557+c, tdbSNP:1049254
615+g, tdbSNP:72667006
648+a, gdbSNP:1049255
complement(673)-g, adbSNP:7195830
complement(687)-g, cdbSNP:113589413
Gene SymbolCYBA
Gene Synonymp22-PHOX
Chromosome16
Locus Map16q24
All Transcripts NM_000101
Title Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph .
Author Casabonne,D., Reina,O., Benavente,Y., Becker,N., Maynadie,M., Foretova,L., Cocco,P., Gonzalez-Neira,A., Nieters,A., Boffetta,P., Middeldorp,J.M. and de Sanjose,S.
Journal Haematologica 96 (2), 323-327 (2011)
Title Characterization of superoxide overproduction by the D-Loop(Nox4)-Nox2 cytochrome b(558) in phagocytes-Differential sensitivity to calcium and phosphorylation events .
Author Carrichon,L., Picciocchi,A., Debeurme,F., Defendi,F., Beaumel,S., Jesaitis,A.J., Dagher,M.C. and Stasia,M.J.
Journal Biochim. Biophys. Acta 1808 (1), 78-90 (2011)
Title The C242T polymorphism of the gene encoding cytochrome b-245 alpha is not associated with paediatric ischaemic stroke: family-based and case-control study .
Author Niemiec,P., Zak,I., Emich-Widera,E., Balcerzyk,A., Kopyta,I., Nowak,T., Wendorff,J., Palatynska,K., Kacinski,M., Pienczk-Reclawowicz,K. and Pilarska,E.
Journal Neurol. Neurochir. Pol. 44 (5), 453-458 (2010)
Title [Influence of genetic factors on the development of target organ lesions in relation to age in diagnosis of arterial hypertension] .
Author Kuznetsova,T.Iu., Gavrilov,D.V., Samokhodskaia,L.M., Postnov,A.Iu. and Boitsov,S.A.
Journal Ter. Arkh. 82 (9), 30-37 (2010)
Title Relation between development of cardiovascular disease and the C242T CYBA polymorphism of the NADPH oxidase in ESRD patients .
Author Tang,F.Y., Zhu,Y., Wang,G.H. and Xie,X.W.
Journal Dis. Markers 29 (2), 89-93 (2010)
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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