Role of cysteine residues in the function of human UDP glucuronosyltransferase isoform 1A1 (UGT1A1).

@article{Ghosh2005RoleOC,
  title={Role of cysteine residues in the function of human UDP glucuronosyltransferase isoform 1A1 (UGT1A1).},
  author={Siddhartha Sankar Ghosh and Yang Lu and Sung Woo Lee and Xia Wang and Chandan Guha and Jayanta Roy-Chowdhury and Namita Roy-Chowdhury},
  journal={The Biochemical journal},
  year={2005},
  volume={392 Pt 3},
  pages={685-92}
}
Bilirubin glucuronidation, catalysed by UGT1A1 [UGT (UDP glucuronosyltransferase) isoform 1A1, EC 2.4.1.17], is critical for biliary elimination of bilirubin. UGT1A1 deficiency causes CN-1 (Crigler-Najjar syndrome type 1), which is characterized by potentially lethal unconjugated hyperbilirubinaemia. Nucleotide sequence analysis of UGT1A1 in two CN-1 patients revealed that patient A was homozygous for a nt 530 G-->A (where nt 530 G-->A means guanine to adenine transition at nucleotide 530… CONTINUE READING

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