實(shí)體腫瘤檢測(cè)UGT1A1基因介紹
這個(gè)基因編碼一個(gè)UDP葡萄糖醛酸基轉(zhuǎn)移酶，一種葡萄糖醛酸化途徑的酶，能將小的親脂性分子，如類固醇、膽紅素、激素和藥物，轉(zhuǎn)化為水溶性、可排泄的代謝物。這個(gè)基因是一個(gè)復(fù)雜基因座的一部分，編碼幾個(gè)UDP葡萄糖醛酸轉(zhuǎn)移酶。該位點(diǎn)包括13個(gè)唯一的交替第一外顯子，隨后是4個(gè)常見外顯子。四個(gè)交替的第一外顯子被認(rèn)為是假基因。其余9個(gè)5’外顯子中的每一個(gè)都可以拼接到4個(gè)常見外顯子上，從而產(chǎn)生9個(gè)具有不同N端和相同C端的蛋白質(zhì)。每個(gè)第一外顯子編碼底物結(jié)合位點(diǎn)，并由其自身的啟動(dòng)子調(diào)控。這種酶的首選底物是膽紅素，盡管它對(duì)簡(jiǎn)單的酚類、黃酮類和C18類固醇也有中等活性。該基因突變導(dǎo)致I型和II型Crigler-Najjar綜合征和吉爾伯特綜合征。
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 preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome.
