CAT
Chr 11catalase
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]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CAT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Testing Olaparib in Patients With Advanced or Metastatic (Cancer That Has Spread) Bladder Cancer and Other Genitourinary Tumors With DNA-Repair Genetic Changes
ACTIVE NOT RECRUITINGEarly Genomic Testing for Inherited Bleeding Disorders
RECRUITINGPersonalized Antibody-Drug Conjugate Therapy Based on RNA and Protein Testing for the Treatment of Advanced or Metastatic Solid Tumors (The ADC MATCH Screening and Treatment Trial)
RECRUITINGPulses Consumption and Its Role in Managing Systemic Inflammation, Insulin Sensitivity and Gut Microbiome in Human
ACTIVE NOT RECRUITINGA Phase II Nationwide, Fully Decentralized, Telemedicine Study of Pemigatinib in Adult Patients With Advanced or Metastatic Pancreatic Cancer With FGFR Genetic Alterations
RECRUITINGStudy to Evaluate the Efficacy and Safety of PF-07055480 / Giroctocogene Fitelparvovec Gene Therapy in Moderately Severe to Severe Hemophilia A Adults
ACTIVE NOT RECRUITINGAlcohol and Cannabis Use Among Pregnant Slovenian Women
ENROLLING BY INVITATIONUsing FDG-PET/CT to Assess Response of Bone-Dominant Metastatic Breast Cancer, FEATURE Study
ACTIVE NOT RECRUITINGRegistry of Patients With MPNs in Taiwan
ACTIVE NOT RECRUITINGEffect of Increased Physical Activity and Stopping Evening Snacking in Metabolic Health in Youth With Prediabetes
RECRUITINGRare Tumor Focused Platform Study of Innovative Therapies and Technologies (PLATFORM2)
NOT YET RECRUITINGTesting the Combination of the Study Drugs Cediranib and Olaparib in Recurrent Ovarian Cancer
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools