CAT Chromosome 11
Catalase
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What This Gene Does
This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Catalase family
Locus Type
gene with protein product
Location
11p13
Ensembl
ENSG00000121691
Associated Conditions (13)
Acatalasia
CAT-related disorder
Uterine corpus endometrial carcinoma
Sarcoma
Thymoma
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Lung cancer
Familial cancer of breast
Intellectual disability
Acatalasemia
japanese type
Key Variants
RS147912187
Conflicting classifications of pathogenicity
Acatalasia, CAT-related disorder, Uterine corpus endometrial carcinoma
Health Risk
RS571047357
Conflicting classifications of pathogenicity
Acatalasia, Intellectual disability, Acatalasia
Health Risk
RS916309338
Likely pathogenic
Health Risk
RS1590302115
Pathogenic
Acatalasemia, japanese type, Acatalasemia
Health Risk
RS2133181057
Pathogenic
Acatalasia, Acatalasia
Health Risk
RS761650208
Pathogenic
Acatalasemia, japanese type, Acatalasemia
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147912187 | Health Risk | Conflicting classifications of pathogenicity | Acatalasia, CAT-related disorder, Uterine corpus endometrial carcinoma |
| RS571047357 | Health Risk | Conflicting classifications of pathogenicity | Acatalasia, Intellectual disability, Acatalasia |
| RS916309338 | Health Risk | Likely pathogenic | — |
| RS1590302115 | Health Risk | Pathogenic | Acatalasemia, japanese type, Acatalasemia |
| RS2133181057 | Health Risk | Pathogenic | Acatalasia, Acatalasia |
| RS761650208 | Health Risk | Pathogenic | Acatalasemia, japanese type, Acatalasemia |