CYBB Chromosome X
Cytochrome b-245 beta chain
Upload your DNA to see your personal genotypes for variants in CYBB.
What This Gene Does
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, Jul 2008]
Gene Info
Gene Group
"Flavoproteins|NADH oxidase family"
Locus Type
gene with protein product
Location
Xp21.1-p11.4
Ensembl
ENSG00000165168
Associated Conditions (15)
Chronic granulomatous disease
Granulomatous disease
chronic
X-linked
Inborn genetic diseases
CYBB-related disorder
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Primary ciliary dyskinesia
Recurrent bronchitis
Dynein arm defect of respiratory motile cilia
variant
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Key Variants
RS1031189017
Conflicting classifications of pathogenicity
Chronic granulomatous disease, Granulomatous disease, chronic
Health Risk
RS1057521937
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064793093
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, X-linked
Health Risk
RS13306300
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, X-linked
Health Risk
RS1377275293
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, X-linked
Health Risk
RS144764222
Conflicting classifications of pathogenicity
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency, Granulomatous disease, chronic
Health Risk
RS151344492
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, X-linked
Health Risk
RS1556464851
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, X-linked
Health Risk
RS1928998515
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, X-linked
Health Risk
RS201356986
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, X-linked
Health Risk
RS2146817067
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, X-linked
Health Risk
RS2519201935
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, X-linked
Health Risk
All Variants (188)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057518579 | Health Risk | Pathogenic | — |
| RS1064794086 | Health Risk | Pathogenic | — |
| RS1131691828 | Health Risk | Pathogenic | Chronic granulomatous disease, Granulomatous disease, chronic |
| RS137854586 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS137854588 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS137854589 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS137854590 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS137854591 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS137854592 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS137854593 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS137854595 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS137854596 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344454 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344455 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344462 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344466 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344467 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344470 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344473 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344481 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344484 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344487 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344491 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS151344497 | Health Risk | Pathogenic | X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency, Chronic granulomatous disease, X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency |
| RS151344498 | Health Risk | Pathogenic | X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency, Chronic granulomatous disease, X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency |
| RS1556464116 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1556464542 | Health Risk | Pathogenic | — |
| RS1556464554 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1556464581 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1556464882 | Health Risk | Pathogenic | — |
| RS1556468363 | Health Risk | Pathogenic | — |
| RS1556469197 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1556470775 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1556470794 | Health Risk | Pathogenic | — |
| RS1556472628 | Health Risk | Pathogenic | — |
| RS1556473119 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1569478551 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1569479943 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1569480333 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1602182150 | Health Risk | Pathogenic | — |
| RS1602183679 | Health Risk | Pathogenic | — |
| RS1602183698 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1602184316 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1602186299 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS180899069 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1928965653 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1928965951 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1929244686 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1929302971 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |
| RS1929304640 | Health Risk | Pathogenic | Granulomatous disease, chronic, X-linked |