CAT wt Allele - CISMeF

Preferred Label : CAT wt Allele;

NCIt synonyms : MGC138424; MGC138422; Catalase wt Allele; CATA wt Allele;

NCIt definition : Human CAT allele is located at 11p13 and is approximately 33 kb in length. This gene, which encodes catalase protein, is involved in the detoxification of hydrogen peroxide. The CAT gene is associated with susceptibility to essential hypertension. A variant allele of this gene is associated with acatalasia, a disease characterized by the absence of catalase activity in red blood cells, which is typically associated with ulcerating oral lesions.;

GenBank Accession Number : NM_001752;

Details

Origin ID

C61061;

UMLS CUI

C1879919;

OMIM relation
- Catalase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p13 [NCIt concept]
gene_is_element_in_pathway
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- FOXO Transcription Factor Family Signaling Pathway [NCIt concept]
- Glyoxylate and Dicarboxylate Metabolism Pathway [NCIt concept]
- Peroxisome Biogenesis Pathway [NCIt concept]
- Tryptophan Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Oxidative Stress [NCIt concept]

Keyword's position in hierarchy(ies) :

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