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Human UDP‐glucuronosyl transferases: Chemical defence, jaundice and gene therapy
Author(s) -
Brierley Catherine H.,
Burchell Brian
Publication year - 1993
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/bies.950151108
Subject(s) - gene isoform , glucuronidation , biology , gene , glucuronosyltransferase , glucuronic acid , enzyme , biochemistry , genetics , polysaccharide , microsome
Human UDP‐glucuronosyltransferases (UDPGTs) are a family of enzymes which detoxify many hundreds of compounds by their conjugation to glucuronic acid, rendering them both harmless and more water soluble, hence, excretable. The level of expression of each UDPGT isoform in the body is the result of interplay between temporal, tissue‐specific and environmental regulators. This complexity contributes to the difficulty in predicting the metabolic fate of compounds. Genetic defects and polymorphisms affecting individual isoform activities have deleterious and potentially lethal effects, as exemplified by the severe hyperbilirubinaemia observed in Crigler‐Najjar Syndrome. Such severe genetic defects in bilirubin glucuronidation are obvious candidates for antenatal screening and gene therapy.