UGT1A8 Chromosome 2

UDP glucuronosyltransferase family 1 member A8
1 variant 1 Health Risk

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What This Gene Does
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. The enzyme encoded by this gene has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
UDP glucuronosyltransferases
Locus Type
complex locus constituent
Location
2q37.1
Ensembl
ENSG00000242366
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS7586110 Health Risk Conflicting classifications of pathogenicity
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