UGT1A8
UDP glucuronosyltransferase family 1 member A8
Summary
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]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372060147 | 2:234,526,454 | A/T | — | uncertain significance |
| rs367811635 | 2:234,526,495 | C/T | — | uncertain significance |
| rs757492857 | 2:234,526,613 | A/T | — | uncertain significance |
| rs368298766 | 2:234,526,615 | C/T | — | uncertain significance |
| rs376546843 | 2:234,526,616 | G/A | — | uncertain significance |
| rs1361432868 | 2:234,526,633 | G/A | — | uncertain significance |
| rs776735190 | 2:234,526,647 | G/C | — | uncertain significance |
| rs752229813 | 2:234,526,657 | G/A | — | likely benign |
| rs891670856 | 2:234,526,691 | C/A | — | uncertain significance |
| rs145367192 | 2:234,526,694 | A/G | — | uncertain significance |
| rs775056833 | 2:234,526,712 | T/C | — | uncertain significance |
| rs147392512 | 2:234,526,804 | G/A | — | uncertain significance |
| rs377456120 | 2:234,526,823 | T/A | — | uncertain significance |
| rs769499369 | 2:234,526,844 | C/T | — | uncertain significance |
| rs1042597 | 2:234,526,871 | C/T | missense variant | — |
| rs1265227912 | 2:234,526,879 | T/C | — | uncertain significance |
| rs764672990 | 2:234,526,966 | G/A | — | uncertain significance |
| rs767497869 | 2:234,526,976 | G/A | — | uncertain significance |
| rs745519607 | 2:234,527,074 | G/A | — | uncertain significance |
| rs772438338 | 2:234,527,109 | G/T | — | uncertain significance |
| rs1042605 | 2:234,527,118 | A/G | synonymous variant | likely benign |
| rs762851423 | 2:234,527,133 | C/G | — | uncertain significance |
| rs183687751 | 2:234,527,174 | G/C | — | uncertain significance |
| rs17863762 | 2:234,527,183 | G/A | missense variant | — |
| rs184726344 | 2:234,530,843 | G/A | intron variant | — |
| rs4300821 | 2:234,531,625 | A/G | intron variant | — |
| rs555099891 | 2:234,536,294 | C/T | — | — |
| rs28969973 | 2:234,536,937 | G/C | intron variant | — |
| rs2741031 | 2:234,538,716 | T/A | — | — |
| rs17868320 | 2:234,578,428 | C/T | — | benign |
| rs28969712 | 2:234,590,478 | T/G | — | benign |
| rs1357541469 | 2:234,590,924 | A/G | — | uncertain significance |
| rs1287277260 | 2:234,591,436 | A/G | — | uncertain significance |
| rs144317442 | 2:234,602,157 | C/T | — | likely benign |
| rs17868341 | 2:234,669,886 | C/T | — | benign |
| rs6708136 | 2:234,675,567 | C/T | — | benign |
| rs1018124 | 2:234,676,118 | G/A | — | benign |
| rs28900402 | 2:234,676,412 | C/T | — | benign |
| rs12471326 | 2:234,676,458 | C/T | — | benign |
| rs745426586 | 2:234,676,602 | T/G | — | likely benign |
| rs10445705 | 2:234,676,787 | G/A | — | benign |
| rs33979061 | 2:234,680,679 | C/A | — | benign |
| rs926387515 | 2:234,680,911 | C/T | — | likely benign |
| rs767732319 | 2:234,681,114 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.