UGT1A1

PBB_Summary
section_title =
summary_text = This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [cite web | title = Entrez Gene: UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54658| accessdate = ]

Lack of expression of UGT1A1 in the neonatal liver is the major cause of jaundice in newborns. This jaundice is generally caused by the natural breakdown of fetal blood cells which produces bilirubin that cannot be cleared if UGT1A1 is expressed at low levels or is absent. This type of jaundice can remedied by UV light exposure.

ee also

* Glucuronosyltransferase

External links

*
* [http://som.flinders.edu.au/FUSA/ClinPharm/UGT/ UGT nomenclature homepage] at flinders.edu.au

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Mackenzie PI, Owens IS, Burchell B, "et al." |title=The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. |journal=Pharmacogenetics |volume=7 |issue= 4 |pages= 255–69 |year= 1997 |pmid= 9295054 |doi=
*cite journal | author=Tukey RH, Strassburg CP |title=Human UDP-glucuronosyltransferases: metabolism, expression, and disease. |journal=Annu. Rev. Pharmacol. Toxicol. |volume=40 |issue= |pages= 581–616 |year= 2000 |pmid= 10836148 |doi= 10.1146/annurev.pharmtox.40.1.581
*cite journal | author=Kadakol A, Ghosh SS, Sappal BS, "et al." |title=Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. |journal=Hum. Mutat. |volume=16 |issue= 4 |pages= 297–306 |year= 2000 |pmid= 11013440 |doi= 10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z |doilabel=10.1002/1098-1004(200010)16:4297::AID-HUMU23.0.CO;2-Z
*cite journal | author=King CD, Rios GR, Green MD, Tephly TR |title=UDP-glucuronosyltransferases. |journal=Curr. Drug Metab. |volume=1 |issue= 2 |pages= 143–61 |year= 2001 |pmid= 11465080 |doi=
*cite journal | author=Bosma PJ |title=Inherited disorders of bilirubin metabolism. |journal=J. Hepatol. |volume=38 |issue= 1 |pages= 107–17 |year= 2003 |pmid= 12480568 |doi=
*cite journal | author=Innocenti F, Ratain MJ |title=Irinotecan treatment in cancer patients with UGT1A1 polymorphisms. |journal=Oncology (Williston Park, N.Y.) |volume=17 |issue= 5 Suppl 5 |pages= 52–5 |year= 2003 |pmid= 12800608 |doi=
*cite journal | author=Lee W, Lockhart AC, Kim RB, Rothenberg ML |title=Cancer pharmacogenomics: powerful tools in cancer chemotherapy and drug development. |journal=Oncologist |volume=10 |issue= 2 |pages= 104–11 |year= 2005 |pmid= 15709212 |doi= 10.1634/theoncologist.10-2-104

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