Synonyms: BILIQTL1,Bilirubin specific UDPGT isozyme 1 ,bilirubin UDP glucuronosyltransferase 1 1 ,bilirubin UDP glucuronosyltransferase isozyme 1 ,Bilirubin-specific UDPGT isozyme 1,EC 188.8.131.52,GNT1,HUG BR1,HUG-BR1,HUGBR1,PHENOL/BILIRUBIN UDP GLUCURONOSYLTRANSFERASE,UD11,UDP glucuronosyltransferase 1 1 [Precursor],UDP glucuronosyltransferase 1 family polypeptide A1 ,UDP glucuronosyltransferase 1A1,UDP GLYCOSYLTRANSFERASE 1,UDP-glucuronosyltransferase 1-1,UDP-glucuronosyltransferase 1-A,UDP-glucuronosyltransferase 1A1,UDPGT ,UDPGT 1-1,UGT 1A,UGT-1A,UGT1 ,UGT1 01,UGT1*1,UGT1-01,UGT1.1,UGT1A,Ugt1a1,URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE, BILIRUBIN/PHENOL,URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 1,URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1
Background: 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.