GeneID: 50



Names

Common Name: UGT1A6 Type: Gene
Chromosome: 2 (NC_000002.12) Locus: NG_002601.2 (UGT1A)
HUGO Symbol: UGT1A6 Full Name: UDP glucuronosyltransferase family 1 member A6
Exons: 5 Introns: 4

Description:
UGT1A6 is a member of the enzyme family of UGTs [UDT (uridine diphosphate) glucuronosyltransferases] that catalyse the addition of glucuronic acid to a wide range of endogenous and exogenous substrates, such as steroids, bilirubin, hormones and drugs, in order to mediate their biotransformation into soluble derivatives for excretion in urine and bile. The UGT1A6 gene is part of a complex locus encoding several UGTs that are classified by sequence homology into two major families, UGT1A and UGT2. The UGT1A locus includes thirteen alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Alternative usage of alternate first exons encoding the substrate binding site results in nine active UGT1A enzymes. The enzyme encoded by this gene is active on phenolic and planar compounds. Polymorphisms in this gene are associated with variable response to deferiprone therapy in β-thalassemia patients. Alternative splicing in the unique 5' end of this gene results in two transcript variants.

Synonyms: GNT1 , HLUGP , UGT1F

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Krishnaswamy S, Hao Q, Al-Rohaimi A, Hesse LM, von Moltke LL, Greenblatt DJ, Court MH, UDP glucuronosyltransferase (UGT) 1A6 pharmacogenetics: II. Functional impact of the three most common nonsynonymous UGT1A6 polymorphisms (S7A, T181A, and R184S)., J. Pharmacol. Exp. Ther. , 313(3), 1340-6, 2005 PubMed
  2. Dadheech S, Rao AV, Shaheen U, Hussien MD, Jain S, Jyothy A, Munshi A, Three most common nonsynonymous UGT1A6*2 polymorphisms (Thr181Ala, Arg184Ser and Ser7Ala) and therapeutic response to deferiprone in β-thalassemia major patients., Gene , 531(2), 301-5, 2013 PubMed
Created on 2016-04-25 16:30:36, Last reviewed on 2016-04-25 16:32:22 (Show full history)


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