Uridine Monophosphate Synthetase

Alternative Names

  • UMPS
  • Orotate Phosphoribosyltransferase
  • OPRT
  • Orotidylic Decarboxylase
  • ODC

Associated Diseases

Orotic Aciduria
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OMIM Number

613891

NCBI Gene ID

7372

Uniprot ID

P11172

Length

18,822 bases

No. of Exons

7

No. of isoforms

4

Protein Name

Uridine 5'-monophosphate synthase

Molecular Mass

52222 Da

Amino Acid Count

480

Genomic Location

chr3:124,730,451-124,749,272

Gene Map Locus
3q21.2

Description

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. [FRom RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000373.4:c.1010C>GUnited Arab EmiratesNC_000003.12:g.124740051C>GLikely PathogenicOrotic AciduriaNG_017037.1:g.14686C>G; NM_000373.4:c.1010C>G; NP_000364.1:p.Ala337Gly
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