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.
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Protein Aliases: Adrenocortical dysplasia protein homolog; POT1 and TIN2-interacting protein; TIN2 interacting protein 1; TPP 1; TPP I; TPPI
Gene Aliases: ACD; PIP1; PTOP; TINT1; TPP1
UniProt ID: (Human) Q96AP0
Entrez Gene ID: (Human) 65057