UMPS wt Allele

**Semantic type:** Gene or Genome

**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.

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