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  • 發布時間:2022-08-04 17:20 原文鏈接: UGT1A9基因突變因子與藥物介紹

    這個基因編碼一個UDP葡萄糖醛酸轉移酶,一種葡萄糖醛酸化途徑的酶,它將小的親脂分子,如類固醇、膽紅素、激素和藥物,轉化為水溶性的、可排泄的代謝物這個基因是一個復雜的基因座的一部分,編碼數個udp葡萄糖醛酸轉移酶。該位點包括13個獨特的交替第一外顯子和4個共同外顯子。四個交替的第一外顯子被認為是假基因。剩下的9個5'外顯子中的每一個都可能被剪接到4個共同的外顯子上,從而產生9個具有不同N-末端和相同C-末端的蛋白質每個第一外顯子編碼底物結合位點,并由其自身的啟動子調控。這個基因編碼的酶對酚類物質有活性[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 is active on phenols. [provided by RefSeq, Jul 2008]

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