DUT - deoxyuridine triphosphatase Gene

中文名称：脱氧尿苷三磷酸酶

种属: Homo sapiens

同用名: BMFDMS; dUTPase

关于 DUT

功能概要

该基因编码一种核苷酸代谢的必需酶。编码的蛋白质形成一种普遍存在的同源四聚体酶，可将 dUTP 水解为 dUMP 和焦磷酸盐。该反应有两个细胞用途：为合成 DNA 复制所需的胸腺嘧啶核苷酸提供前体 (dUMP) ，以及限制细胞内的 dUTP 库。 dUTP 水平升高导致尿嘧啶掺入 DNA 的增加，从而诱导由尿嘧啶糖基化酶介导的广泛切除修复。这种导致 dUTP 去除和重新掺入的修复过程是弄巧成拙并导致 DNA 断裂和细胞死亡。该基因的可变剪接导致定位于线粒体或细胞核的不同亚型。一个相关的假基因位于 19 号染色体上。[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]