UMPS wt Allele

Preferred Label : UMPS wt Allele;

NCIt synonyms : ODC; OK/SW-cl.21; Orotate Phosphoribosyl Transferase and Orotidine-5'-Decarboxylase Gene; Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Gene; OPRT; Uridine Monophosphate Synthetase wt Allele;

NCIt definition : Human UMPS wild-type allele is located in the vicinity of 3q21.2 and is approximately 19 kb in length. This allele, which encodes uridine 5'-monophosphate synthase protein, is involved in the biosynthesis of pyrimidines. Loss of function mutations in the gene are associated with orotic aciduria.;

NCI Metathesaurus CUI : CL1798908;

GenBank Accession Number : NM_000373;

Details

Origin ID

C190410;

UMLS CUI

C5780976;

Automatic exact mappings (from CISMeF team)
- Solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 [OMIM gene]
- ornithine decarboxylase 1 [ORDO Gene]
OMIM relation
- Uridine monophosphate synthetase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Uridine monophosphate synthetase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q21.2 [NCIt concept]
gene_is_element_in_pathway
- Drug Metabolism by Non-CYP450 Enzymes Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Nucleotide Biosynthesis Process [NCIt concept]

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