Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.

Abstract

Gilbert and Crigler-Najjar syndromes are familial unconjugated hyperbilirubinemias caused by genetic lesions involving a single complex locus encoding for bilirubin UDP-glucuronosyltransferase (UGT1A1) gene. Over the last years a number of different mutations affecting this gene have been characterized. In this report is provided a summary of reported Gilbert and Crigler-Najjar syndromes associated UGT1A1 gene mutations.

• Authors: Elísio Costa
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) 2006 Jan-Feb Vol. 36 Issue 1 Pg. 77-80 ISSN: 1079-9796 [Print] United States
• PMID: 16386929 (Publication Type: Journal Article, Review)

Chemical References

• UGT1A1 enzyme
• Glucuronosyltransferase

Topics

• Crigler-Najjar Syndrome (genetics)
• Female
• Gilbert Disease (genetics)
• Glucuronosyltransferase (genetics)
• Humans
• Male
• Mutation