XDH wt Allele - CISMeF

Preferred Label : XDH wt Allele;

NCIt synonyms : XOR; XO; XD; Xanthine Dehydrogenase wt Allele;

NCIt definition : Human XDH wild-type allele is located in the vicinity of 2p23.1 and is approximately 79 kb in length. This allele, which encodes xanthine dehydrogenase/oxidase protein, is involved in the stepwise oxidation of hypoxanthine to produce purine and ultimately uric acid. Certain allelic variants of the XDH gene, which encode protein products with low enzymatic activity, cause xanthinuria.;

GenBank Accession Number : NM_000379;

Details

Origin ID

C50947;

UMLS CUI

C1704669;

OMIM relation
- Xanthine dehydrogenase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p23-p22 [NCIt concept]
gene_is_element_in_pathway
- Caffeine Metabolism Pathway [NCIt concept]
- Drug Metabolism by Non-CYP450 Enzymes Pathway [NCIt concept]
- Peroxisome Biogenesis Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Negative Regulation of Angiogenesis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Signal Transduction Inhibition [NCIt concept]

Keyword's position in hierarchy(ies) :

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