Description: Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA. RefSeq Summary (NM_000101): 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. Transcript (Including UTRs) Position: hg19 chr16:88,711,495-88,717,492 Size: 5,998 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr16:88,712,506-88,717,421 Size: 4,916 Coding Exon Count: 5
ID:H3BR52_HUMAN DESCRIPTION: SubName: Full=Cytochrome b-245 light chain; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
atherosclerosis Hayaishi-Okano, R. et al. 2003, Association of NAD(P)H Oxidase p22 phox Gene Variation With Advanced Carotid Atherosclerosis in Japanese Type 2 Diabetes, Diabetes care. 2003 Feb;26(2):458-63.
[PubMed 12547880]
These results show that the C242T mutation in the p22 phox gene is associated with progression of asymptomatic atherosclerosis in the subjects with type 2 diabetes and is also associated with insulin resistance in nondiabetic subjects.
atherosclerosis, coronary He, M. et al. 2004, [Study on the relationship between the polymorphism of P22phox C242T, vitamin E and coronary heart disease], Wei sheng yan jiu. 2004 Jul;33(4):443-6.
[PubMed 15461271]
The polymorphism of P22phox C242T is associated with CHD in Chinese. Vitamin E is protective against CHD and there is effect on the progress of CHD in the interaction of the polymorphism of P22phox C242T and vitamin E.
atherosclerosis, coronary Nasti, S. et al. 2006, C242T Polymorphism in CYBA gene (p22;{phox}) and risk of coronary artery disease in a population of Caucasian Italians, Dis Markers 2006 22(3) 167-73.
[PubMed 16788250]
these results support the increased risk of developing early CAD and of having rapid progression of coronary stenosis in subjects carrying the C242T nucleotide transition among the Italian population.
atherosclerosis, coronary Fan, M. et al. 2006, The p22phox C242T gene polymorphism is associated with a reduced risk of angiographically verified coronary artery disease in a high-risk Finnish Caucasian population. The Finnish Cardiovascular Study, Am Heart J 2006 152(3) 538-42.
[PubMed 16923427]
The T allele in the C242Tpolymorphism of the p22phox gene had a protective effect against the development of CAD despite the exposure of study subjects to risk factors related to excessive NADPH-dependent superoxide production.
atherosclerosis, coronary He, M. A. et al. 2007, Associations of polymorphism of P22(phox) C242T, plasma levels of vitamin E, and smoking with coronary heart disease in China, Am Heart J 2007 153(4) 640.e1-6.
[PubMed 17383305]
These data provide evidence that P22(phox) genotypes are significantly associated with CHD risk in a Chinese population and suggest potential interactions among smoking, P22(phox) genotypes, and vitamin E in relation to CHD risk.
cardiac death cardiovascular disease oxidative stress Grahl, D. A. et al. 2007, Associations between the CYBA 242C/T and the MPO -463G/A Polymorphisms, Oxidative Stress and Cardiovascular Disease in Chronic Kidney Disease Patients, Blood Purif 2007 25(2) 210-218.
[PubMed 17337886]
cardiovascular Schachinger V et al. 2001, NADH/NADPH oxidase p22 phox gene polymorphism is associated with improved coronary endothelial vasodilator function., European heart journal. 2001 Jan;22(1):96-101.
[PubMed 11133215]
The C242T polymorphism of the p22 phox gene is an important independent determinant of coronary endothelial vasodilator function. These results provide the first clinical evidence for the functional significance of a polymorphism of a gene related to superoxide anion production in the vascular wall.
cerebrovascular disease Ishii K 2004, Genetic risk factors for ischemic cerebrovascular disease--analysis on fifteen candidate prothrombotic gene polymorphisms in the Japanese population, Rinsho byori The Japanese journal of clinical pathology. 2004 Jan;52(1):22-7.
[PubMed 14968555]
Carrying both of the two mutations might be associated with developing CVD at a younger age.
cervical intraepithelial neoplasia grade 3 Sophia S Wang , et al. The Journal of infectious diseases 2009 199(1):20-30, Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer., The Journal of infectious diseases 2009 199(1):20-30.
[PubMed 19012493]
Our results require replication but support the role of FANCA variants in cervical cancer susceptibility and of IRF3 in HPV persistence.
cholesterol Shimokata K 2004, Association of gene polymorphisms with coronary artery disease in individuals with or without nonfamilial hypercholesterolemia., Atherosclerosis. 2004 Jan;172(1):167-73.
[PubMed 14709372]
coronary artery disease Lee, W. H. et al. 2001, Genetic factors associated with endothelial dysfunction affect the early onset of coronary artery disease in Korean males., Vascular medicine (London, England). 2001 ;6(2):103-8.
[PubMed 11530961]
The ecNOS gene a/b polymorphism and the NADH/NADPH oxidase p22 phox gene C242T polymorphism were found to be significantly associated with the development of CAD in Korean male patients less than 51 years old.
coronary endothelial vasodilator function Schachinger, V. et al. 2001, NADH/NADPH oxidase p22 phox gene polymorphism is associated with improved coronary endothelial vasodilator function., European heart journal. 2001 Jan;22(1):96-101.
[PubMed 11133215]
The C242T polymorphism of the p22 phox gene is an important independent determinant of coronary endothelial vasodilator function. These results provide the first clinical evidence for the functional significance of a polymorphism of a gene related to superoxide anion production in the vascular wall.
coronary heart disease in younger individuals. Gardemann A et al. 1999, The p22 phox A640G gene polymorphism but not the C242T gene variation is associated with coronary heart disease in younger individuals., Atherosclerosis. 1999 Aug;145(2):315-23.
[PubMed 10488959]
Our observations allow the assumption that the p22 phox A640G gene polymorphism is independently associated with the presence and extent of coronary artery disease.
hypertension Kokubo, Y. et al. 2005, Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population--the Suita Study., Circulation journal. 2005 Feb;69(2):138-42.
[PubMed 15671602]
The significance of the G(-930)A polymorphism of CYBA was confirmed in the present study with adequate statistical power, which strengthens the hypothesis that this polymorphism is important in the pathogenesis of hypertension and confers susceptibility.
hypertension Moreno MU et al. 2003, Preliminary characterisation of the promoter of the human p22(phox) gene: identification of a new polymorphism associated with hypertension., FEBS letters. 2003 May;542(3-Jan):27-31.
[PubMed 12729892]
hypertension Moreno, M. U. et al. 2007, A novel CYBA variant, the -675A/T polymorphism, is associated with essential hypertension, J Hypertens 2007 25(8) 1620-1626.
[PubMed 17620958]
The -675 CYBA polymorphism may be a novel genetic marker associated with essential hypertension. Furthermore, TT subjects exhibit features of NADPH oxidase-mediated oxidative stress and asymptomatic atherosclerosis.
hypertension NADPH oxidase activity Moreno, M. U. et al. 2006, The C242T CYBA polymorphism of NADPH oxidase is associated with essential hypertension, J Hypertens 2006 24(7) 1299-1306.
[PubMed 16794479]
The C242T CYBA polymorphism is associated with essential hypertension.
hypertension vascular aging Kim, K. I. et al. 2007, Impact of NAD(P)H oxidase p22(phox) gene polymorphism on vascular aging in Korean centenarian and nonagenarian, Int J Cardiol 2007.
[PubMed 17307262]
These results suggest an association between the p22(phox) C242T polymorphism and vascular aging, which might be mediated by the increase of oxidative stress.
Insulin Resistance|Obesity M C Ochoa , et al. Journal of physiology and biochemistry 2008 64(2):127-33, G allele of the -930A>G polymorphism of the CYBA gene is associated with insulin resistance in obese subjects., Journal of physiology and biochemistry 2008 64(2):127-33.
[PubMed 19043982]
kidney failure, acute Perianayagam, M. C. et al. 2006, NADPH Oxidase p22phox and Catalase Gene Variants Are Associated with Biomarkers of Oxidative Stress and Adverse Outcomes in Acute Renal Failure, J Am Soc Nephrol 2006.
[PubMed 17151330]
NADPH Oxidase Wyche, K. E. et al. 2004, C242T CYBA Polymorphism of the NADPH Oxidase Is Associated With Reduced Respiratory Burst in Human Neutrophils, Hypertension. 2004 Jun;43(6):1246-51.
[PubMed 15078863]
Because p22(phox) exists in both the neutrophil and vessel wall, vascular oxidative stress is likely diminished in individuals with this polymorphism.
oxidative stress Park, J. Y. et al. 2005, NADPH oxidase p22phox gene variants are associated with systemic oxidative stress biomarker responses to exercise training., Journal of applied physiology (Bethesda, Md : 1985). 2005 Nov;99(5):1905-11.
[PubMed 16002772]
periodontitis Nibali, L. et al. 2006, NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis, J Clin Periodontol 2006 33(8) 529-39.
[PubMed 16899095]
C242T p22phox NADPH oxidase and FcgammaR polymorphisms may predispose to AgP through a modulation of neutrophil superoxide production.
vascular NAD(P)H oxidase activity Guzik, T. J. et al. 2000, Functional effect of the C242T polymorphism in the NAD(P)H oxidase p22phox gene on vascular superoxide production in atherosclerosis., Circulation. 2000 Oct;102(15):1744-7.
[PubMed 11023926]
Association of the CYBA 242T allele with reduced NAD(P)H oxidase activity in human blood vessels suggests that genetic variation in NAD(P)H oxidase components may play a significant role in modulating superoxide production in human atherosclerosis.
vasodilation, flow-mediated Fan, M. et al. 2007, CYBA C242T gene polymorphism and flow-mediated vasodilation in a population of young adults, J Hypertens 2007 25(7) 1381-1387.
[PubMed 17563559]
The C242T polymorphism of the CYBA gene seems to be related to endothelial function in a population-based sample of young healthy adults. Overweight and smoking status may modify this genetic effect.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on H3BR52
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
