基因名:
UMPS
产品别名:
OPRT; UMPS; uridine monophosphate synthetase; uridine monophosphate synthetase; uridine 5'-monophosphate synthase; OMPdecase; OPRTase; UMP synthase; orotate phosphoribosyltransferase; orotidine 5'-phosphate decarboxylase; 尿苷单磷酸合成酶(UMPS); 尿苷磷酸合成酶;
背景信息:
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]