TYMP wt Allele

Preferred Label : TYMP wt Allele;

NCIt synonyms : Gliostatin; PDECGF; Thymidine Phosphorylase wt Allele; hPD-ECGF; TP; Endothelial Cell Growth Factor 1 (Platelet-Derived) Gene; ECGF1; MNGIE; ECGF1 wt Allele;

NCIt definition : Human TYMP wild-type allele is located within 22q13 and is approximately 4 kb in length. This allele, which encodes thymidine phosphorylase protein, plays a role in the reversible phosphorylation of thymidine. Certain allelic variants of the gene cause mitochondrial neurogastrointestinal encephalomyopathy.;

GenBank Accession Number : M63193;

Details

Origin ID

C50955;

UMLS CUI

C1705440;

OMIM relation
- Thymidine phosphorylase [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_has_physical_location
- 22: 49258599-49254325 [NCIt concept]
gene_in_chromosomal_location
- 22q13.33 [NCIt concept]
gene_is_element_in_pathway
- Bladder Cancer Pathway [NCIt concept]
- Drug Metabolism by Non-CYP450 Enzymes Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Glial Cell Proliferation [NCIt concept]
- Glycosylation [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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