CAT
catalase
Summary
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]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769214 | 11:34,459,717 | G/A | upstream gene variant | — |
| rs1001179 | 11:34,460,231 | C/G | — | uncertain significance |
| rs7943316 | 11:34,460,472 | A/T | regulatory region variant | — |
| rs1049982 | 11:34,460,541 | T/C | regulatory region variant | benign |
| rs10836235 | 11:34,460,704 | C/G | — | — |
| rs480575 | 11:34,467,646 | A/G | intron variant | — |
| rs34503767 | 11:34,472,530 | G/A | — | benign |
| rs770263900 | 11:34,472,578 | C/T | — | likely benign |
| rs61752922 | 11:34,472,623 | C/T | — | benign |
| rs114883175 | 11:34,472,649 | A/T | — | benign |
| rs761650208 | 11:34,473,759 | G/A | — | pathogenic |
| rs148174786 | 11:34,474,682 | C/A | — | likely benign |
| rs1335006210 | 11:34,474,686 | A/C | — | uncertain significance |
| rs140390355 | 11:34,474,711 | C/T | — | likely benign |
| rs78209054 | 11:34,474,721 | C/T | — | benign |
| rs200989008 | 11:34,475,386 | A/T | — | likely benign |
| rs147148220 | 11:34,475,387 | C/T | — | likely benign |
| rs1395002884 | 11:34,475,409 | G/T | — | uncertain significance |
| rs2300181 | 11:34,476,539 | C/T | intron variant | — |
| rs17886350 | 11:34,477,572 | C/A | synonymous variant | likely benign |
| rs56248816 | 11:34,477,717 | A/G | — | likely benign |
| rs1365498884 | 11:34,477,741 | C/T | — | uncertain significance |
| rs147912187 | 11:34,477,754 | G/T | — | conflicting classifications of pathogenicity |
| rs2494635651 | 11:34,478,305 | G/A | — | uncertain significance |
| rs2494635756 | 11:34,478,360 | T/C | — | uncertain significance |
| rs571047357 | 11:34,478,365 | G/C | — | conflicting classifications of pathogenicity |
| rs776502660 | 11:34,482,793 | T/C | — | likely benign |
| rs916309338 | 11:34,482,796 | A/G | — | likely pathogenic |
| rs769217 | 11:34,482,908 | C/T | synonymous variant | benign |
| rs144648293 | 11:34,482,910 | G/A | — | benign |
| rs148868158 | 11:34,482,917 | G/A | — | uncertain significance |
| rs7113917 | 11:34,483,147 | A/G | intron variant | — |
| rs2284367 | 11:34,484,542 | T/C | regulatory region variant | — |
| rs200089024 | 11:34,485,707 | T/C | — | likely benign |
| rs704724 | 11:34,485,711 | C/G | missense variant | benign |
| rs753628651 | 11:34,485,727 | A/G | — | likely benign |
| rs145759100 | 11:34,485,773 | C/T | — | likely benign |
| rs746357360 | 11:34,489,856 | G/A | — | uncertain significance |
| rs761221013 | 11:34,489,863 | A/G | — | uncertain significance |
| rs370234500 | 11:34,489,905 | A/C | — | uncertain significance |
| rs77168540 | 11:34,490,575 | A/G | intron variant | — |
| rs753996249 | 11:34,492,537 | C/T | — | likely benign |
| rs17880442 | 11:34,492,546 | C/T | synonymous variant | benign |
| rs144800919 | 11:34,492,548 | T/C | — | likely benign |
| rs200858410 | 11:34,492,594 | C/G | — | uncertain significance |
| rs35677492 | 11:34,492,956 | G/A | synonymous variant | benign |
| rs2234940 | 11:34,492,985 | G/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.