CAT Chromosome 11

Catalase
6 variants 6 Health Risk

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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
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
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