The UGT1A1 gene belongs to a family of genes that provide instructions for making enzymes called UDP-glucuronosyltransferases. These enzymes perform a chemical reaction called glucuronidation, in which a compound called glucuronic acid is attached (conjugated) to one of a number of different substances.
The protein produced from the UGT1A1 gene, called the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, is the only enzyme that glucuronidates bilirubin, a substance produced when red blood cells are broken down. This enzyme converts the toxic form of bilirubin (unconjugated bilirubin) to its nontoxic form (conjugated bilirubin), making it able to be dissolved and removed from the body.
The bilirubin-UGT enzyme is primarily found in cells of the liver, where bilirubin glucuronidation takes place. Conjugated bilirubin is dissolved in bile, a fluid produced in the liver, and excreted with solid waste.
Other Names
BILIQTL1; bilirubin UDP-glucuronosyltransferase 1-1; bilirubin-specific UDPGT isozyme 1; GNT1; HUG-BR1; UD11_HUMAN; UDP glucuronosyltransferase 1 family, polypeptide A1; UDP glycosyltransferase 1 family, polypeptide A1; UDP-glucuronosyltransferase 1-A; UDP-glucuronosyltransferase 1A1; UDPGT; UDPGT 1-1; UGT-1A; UGT1; UGT1*1; UGT1-01; UGT1.1; UGT1A
Related Genetics Topics
- Gilbert syndrome — MedlinePlus Genetics
- Crigler-Najjar syndrome — MedlinePlus Genetics
- Warfarin resistance — MedlinePlus Genetics
Identifiers
- NCBI Gene: 54658
- OMIM: 191740
- OMIM: 237900
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
