Home > Gene Browser > CYBB
CYBB
- Synonyms
- AMCBX2, CGD, CGDX, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX
- External resources
- NCBI1536
- OMIM300481
- EnsemblENSG00000165168
- HGNCHGNC:2578
- Summary
- 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.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 5
- Likely pathogenic
- 1
- VUS
- 3,677
- Likely benign
- 4,780
- Benign
- 79
Patient phenotypes
Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on CYBB gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of head or neck
- 25%
- Abnormality of limbs
- 25%
- Abnormality of prenatal development or birth
- 25%
- Abnormality of the cardiovascular system
- 25%
- Abnormality of the digestive system
- 25%
- Abnormality of the ear
- 25%
- Abnormality of the genitourinary system
- 25%
- Abnormality of the nervous system
- 25%
- Growth abnormality
- 25%
- Abnormal cellular phenotype
- 0%
- Abnormality of blood and blood-forming tissues
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the eye
- 0%
- Abnormality of the immune system
- 0%
- Abnormality of the integument
- 0%
- Abnormality of the musculoskeletal system
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Constitutional symptom
- 0%
- Neoplasm
- 0%
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