Article
Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man.
The Journal of biological chemistry - 8 Jul 1994
Bosma P J, Seppen J, Goldhoorn B, Bakker C, Oude Elferink R P, Chowdhury J R, Chowdhury N R, Jansen P L
Abstract excerpt
Crigler-Najjar syndrome type I (CN-I) is caused by an inherited absence of UDP-glucuronosyltransferase activity toward bilirubin (B-UGT), resulting in severe non-hemolytic unconjugated hyperbilirubinemia. Based on the expression of cDNAs in COS cells, two UGT isoforms in human liver, B-UGT1 and B...
Topics
- Animals
- Base Sequence
- Bilirubin
- Catalysis
- Cell Line
- Cloning, Molecular
- Crigler-Najjar Syndrome
- Exons
- Glucuronosyltransferase
- Humans
- Isoenzymes
- Liver
- Mutation
- Recombinant Proteins
