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    發布時間:2022-08-23 11:57 原文鏈接: UMPS基因編碼的功能和結構描述

    這個基因編碼尿苷5'-單磷酸合酶。編碼的蛋白質是一種雙功能酶,對從頭嘧啶生物合成途徑的最后兩個步驟進行催化。第一個反應是由N-末端的酶-磷酸核糖基轉移酶進行的,該酶將乳清酸轉化為5'-單磷酸鹽。末端反應是由C末端酶OMP脫羧酶進行的,該酶能將5'-單磷酸列替丁轉化為單磷酸尿苷。這個基因的缺陷是遺傳性口腔酸尿的原因。交替剪接導致多個轉錄變體。

    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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