基因名称：UMPS （uridine monophosphate synthetase）
别名： OPRT
基因ID：7372
Chromosome(GRCh37) ：3 Start: 124449213 End: 124468120 Strand:
信号通路： 能量代谢
靶向药：
化疗药：
简介：这个基因编码尿苷5′-单磷酸合酶。编码的蛋白质是一种双功能酶，对从头嘧啶生物合成途径的最后两个步骤进行催化。第一个反应是由N-末端的酶-磷酸核糖基转移酶进行的，该酶将乳清酸转化为5′-单磷酸盐。末端反应是由C末端酶OMP脱羧酶进行的，该酶能将5′-单磷酸列替丁转化为单磷酸尿苷。这个基因的缺陷是遗传性口腔酸尿的原因。交替剪接导致多个转录变体。[由RefSeq提供，2010年3月]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]
UMPS突变与药物：
