Defective UGT1A1 causes hyperbilirubinemia|遗传性疾病数据集|生物化学数据集

UDP-glucuronosyltransferases (UGTs) play a major role in the conjugation and therefore elimination of potentially toxic xenobiotics and endogenous compounds. The 1-1 isoform UGT1A1 is able to act upon lipophilic bilirubin, the end product of heme breakdown. Defects in UGT1A1 can cause hyperbilirubinemia syndromes ranging from mild forms such as Gilbert syndrome (GILBS; MIM:143500) and transient familial neonatal hyperbilirubinemia (HBLRTFN; MIM:237900) to the more severe Crigler-Najjar syndromes 1 and 2 (CN1, CN2; MIM:218800 and MIM:606785) (Sticova & Jirsa 2013, Strassburg 2010, Udomuksorn et al. 2007, Costa 2006, Maruo et al. 2000).

UDP-葡萄糖醛酸基转移酶（UGTs）在异源生物和内源性化合物的结合及随之而来的排除过程中发挥着举足轻重的作用。1-1同型异构体UGT1A1能够作用于亲脂性的胆红素，这是血红素分解的终产物。UGT1A1基因的缺陷可能导致从轻微的吉尔伯特综合征（GILBS；MIM：143500）和暂时性家族性新生儿高胆红素血症（HBLRTFN；MIM：237900）等轻度形式，到更为严重的Crigler-Najjar综合征1型和2型（CN1，CN2；MIM：218800和MIM：606785）等一系列高胆红素血症综合征（Sticova & Jirsa 2013，Strassburg 2010，Udomuksorn et al. 2007，Costa 2006，Maruo et al. 2000）。