基因名:
Ugt1a1
产品别名:
UDPGT 1-1; Udpgt; Ugt1; Ugt1a1; UDP glucuronosyltransferase family 1 member A1; UDP glucuronosyltransferase family 1 member A1; UDP-glucuronosyltransferase 1A1; B1; UDP glucuronosyltransferase 1 family, polypeptide A1; UDP glycosyltransferase 1 family, polypeptide A1; UDP-glucuronosyltransferase 1 family member 1; UDP-glucuronosyltransferase 1-1; UGT1*1; UGT1-01; UGT1.1; UDP葡糖醛酸基转移酶1家族多肽A1(UGT1A1); 尿苷二磷酸葡萄糖醛酸转移酶A1;
背景信息:
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. [provided by RefSeq, Jul 2008]