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    發布時間:2022-08-09 13:49 原文鏈接: DUT基因編碼功能及結構描述

    這個基因編碼核苷酸代謝的一種必需酶編碼的蛋白質形成一種普遍存在的四聚體酶,能水解dutp使其傾倒并焦磷酸鹽。這種反應有兩個細胞用途:提供合成DNA復制所需的胸腺嘧啶核苷酸的前體(dUMP),以及限制dUTP的細胞內池dUTP水平升高導致尿嘧啶在DNA中的結合增加,從而誘導尿嘧啶糖基化酶介導的廣泛切除修復這種修復過程,導致dutp的去除和再結合,是自相殘殺的,導致dna斷裂和細胞死亡。這個基因的選擇性剪接導致不同的亞型,定位到線粒體或細胞核。一個相關的假基因位于19號染色體上。[由RefSeq提供,2008年7月]

    This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. [provided by RefSeq, Jul 2008]

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