UMPS (NM_000373) - uridine monophosphate synthetase
Uridine 5'-Monophosphate Synthase
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Protein 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, Mar 2010].
- Strand
- +
- Chromosome
- 3
- Protein
- 480 residues
- All mutations
- 82
- PTM sites
- 29
- CDS
- 124,449,318 - 124,462,931
- Transcription
- 124,449,212 - 124,468,119
Usage summary
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