Entrez gene ID | | 7372 |
Official gene symbol | | UMPS |
Full name | | uridine monophosphate synthetase |
Aliases | | ,OPRT, |
Gene summary | | This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq] |
Location | | Chromosome: 3 Locus: 3q13 |
Gene position | | 124449213 - 124468120 Map Viewer |
Gene orientation | | plus |
Gene size | | 18908 bp |
Gene sequence |
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OMIM ID | | 258900 |