Harmonizome 3.0

catalase

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]

transfer RNA-Met (CAT) 2-1

transfer RNA-Met (CAT) 3-2

transfer RNA-Met (CAT) 3-1

transfer RNA-Met (CAT) 6-1

transfer RNA-iMet (CAT) 3-1

transfer RNA-iMet (CAT) 2-1

Santos and Zasloff (1981) [PubMed 6261953] identified 12 initiator methionine tRNA genes, symbolized tRNA-i(met), in the haploid human genome. Zasloff et al. (1982) [PubMed 6923137] found a variant tRNA-i(met) with a G-to-T transversion in the highly conserved TCGA sequence in loop 4, a sequence position occupied exclusively by a purine (usually G) in almost 200 prokaryotic and eukaryotic tRNAs. One functional consequence of this base substitution is reduction in the rate of processing of the primary transcript of the gene. A second, demonstrated by microinjection into the germinal vesicle of the intact Xenopus laevis oocyte, is blockage of egress from the nucleus. It has been estimated that the human haploid genome contains 1,000 to 2,000 tRNA genes and that there are 50 to 60 chromatographically distinct tRNA species. These observations suggest redundancy of some tRNA genes. The studies of initiator methionine tRNA genes bear out this suspicion.[supplied by OMIM, Sep 2009]

transfer RNA-Met (CAT) 4-1

transfer RNA-Met (CAT) 4-3

transfer RNA-Met (CAT) 4-2

transfer RNA-Met (CAT) 1-1

transfer RNA-Met (CAT) 5-1

transfer RNA-Met (CAT) 7-1

transfer RNA-iMet (CAT) 1-8

transfer RNA-iMet (CAT) 1-3

transfer RNA-iMet (CAT) 1-2

transfer RNA-iMet (CAT) 1-1

transfer RNA-iMet (CAT) 1-7

transfer RNA-iMet (CAT) 1-6

transfer RNA-iMet (CAT) 1-5

transfer RNA-iMet (CAT) 1-4