Synonym(s)
Glucuronosyltransferase, Uridine-5'-diphospho-glucuronosyltransferase, UGT; Glucuronyltransferase (e), glucuronosyltransferase; OMIM: 191740; UDP-glucuronosyltransferase; UDP-glucuronosyltransferases; UDP-glucuronyltransferase; UDP-GT
ClassificationThis section has been translated automatically.
The UDP-glucuronosyltransferases will be divided into families and subfamilies:
- UGT1: Family 1
- UGT1A: Subfamily A
- UGT1A1: Individual enzyme
Note(s)This section has been translated automatically.
A lack of functional UDP-GT1-A1 leads to hyperbilirubinemia and thus to the intermittent icterus (M. Meulengracht). The genetic defect leading to Icterus intermittens does not affect the coding sequence but the regulatory area of the enzyme. It is located in the promoter region of exon 1.
Rare mutations of the UGT1A1 gene which lead to an (almost) complete defect of the enzyme cause the very severe form of this disease, the Crigler-Najjar syndrome or Arias syndrome. The enzyme also has a further pathological significance in the case of so-called neonatal jaundice. The enzyme is not yet sufficiently active in the newborn.
LiteratureThis section has been translated automatically.
- Ebrahimi A et al (2018) Crigler-Najjar Syndrome: Current Perspectives and the Application of Clinical Genetics. Endocr Metab Immune Disord Drug Targets 18:201-211.
- Maruo Y et al (2016) Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. J Gastroenterol Hepatol 31:403-408.
- Rowland A et al (2013) The UDP-glucuronosyltransferases: their role in drug metabolism and detoxification. Int J Biochem Cell Biol 45:1121-1132.
Prof. Dr. med. Peter Altmeyer