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UMPS / OPRT 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.
Gene Name: | uridine monophosphate synthetase |
Synonyms: | UMPS, OMPdecase, OPRT, OPRTase, UMP synthase |
Target Sequences: | NM_000373 NP_000364.1 P11172 |
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