UGT1A10

Chr 2

UDP glucuronosyltransferase family 1 member A10

Also known as: UGT-1J, UGT1-10, UGT1.10, UGT1J

NCBI Gene: 54575 ENSG00000242515 UniProt: Q9HAW8 OMIM: 606435

This gene encodes UDP-glucuronosyltransferase 1A10, an enzyme that conjugates lipophilic molecules including drugs, hormones, and xenobiotics with glucuronic acid to facilitate their excretion from the body. The gene shows low constraint against loss-of-function variants (high LOEUF score of 1.742), and no Mendelian diseases have been definitively associated with UGT1A10 mutations in current databases. This enzyme is part of a gene cluster that includes UGT1A1, mutations in which cause Gilbert syndrome and Crigler-Najjar syndrome with bilirubin metabolism defects.

OMIM ResearchSummary from RefSeq, UniProt

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 on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.74

LOEUF

Multiple*

Mechanism· predicted