菜单 基因医生

这个基因编码一个udp葡萄糖醛酸转移酶,一种葡萄糖醛酸化途径的酶,它将小的亲脂分子,如类固醇、胆红素、激素和药物,转化为水溶性的、可排泄的代谢物。这个基因是一个复杂的基因座的一部分,编码数个udp葡萄糖醛酸转移酶。该位点包括13个独特的交替第一外显子和4个共同外显子。四个交替的第一外显子被认为是假基因。剩下的9个5'外显子中的每一个都可能被剪接到4个共同的外显子上,从而产生9个具有不同n-末端和相同c-末端的蛋白质。每个第一外显子编码底物结合位点,并由其自身的启动子调控。该基因编码的酶具有葡萄糖醛酸酶活性,底物包括香豆素、酚类、蒽醌、黄酮类和一些阿片类。[由RefSeq提供,2008年7月]
This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. [provided by RefSeq, Jul 2008]

基因名:UGT1A8
别名:GNT1,UGT1,UDPGT,UGT1A,UGT1H,UGT-1A,UGT-1H,UGT1.1,UGT1.8,UGT1A1,UGT1-01,UGT1-08,UGT1A8S,hUG-BR1,UDPGT1-8
基因ID:54576
Chromosome:
(GRCh37)
2 Start: 234526291 End: 234681946 Strand: 
信号通路:  
UGT1A8 基因突变与药物