CYBA Chromosome 16
Cytochrome b-245 alpha chain
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What This Gene Does
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]
Associated Conditions (10)
Granulomatous disease
chronic
autosomal recessive
cytochrome b-negative
CYBA-related disorder
Chronic granulomatous disease
See cases
Inborn genetic diseases
Polyglandular autoimmune syndrome
type 1
Key Variants
RS114610092
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS149344911
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS2142869764
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS377055239
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS576565258
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS72547285
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS760275837
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS762277251
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS111571762
Likely pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1191361764
Likely pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1246768740
Likely pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1445023836
Likely pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
All Variants (58)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS983116270 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS104894513 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS104894514 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS1272232395 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS1439134665 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS179363894 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Granulomatous disease |
| RS2507528036 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS28941476 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |