UGT1A4
UDP glucuronosyltransferase family 1 member A4
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. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq, Jul 2008]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3732219 | 2:233,718,602 | C/T | upstream gene variant | — |
| rs3892221 | 2:233,718,851 | C/T | missense variant | — |
| rs141408391 | 2:233,718,993 | CG/C | frameshift variant | — |
| rs183802414 | 2:233,719,091 | C/T | missense variant | — |
| rs201323245 | 2:233,719,112 | C/T | stop gained | — |
| rs12468274 | 2:233,719,268 | T/C | synonymous variant | — |
| rs562977700 | 2:233,719,688 | G/T | splice donor variant | — |
| rs2011219 | 2:233,719,730 | C/T | intron variant | — |
| rs2011425 | 2:234,627,397 | T/A | missense | — |
| rs1317647482 | 2:234,627,477 | G/A | — | uncertain significance |
| rs149314940 | 2:234,627,498 | G/A | — | likely benign |
| rs62191899 | 2:234,627,508 | A/G | — | likely benign |
| rs754634228 | 2:234,627,510 | G/T | — | uncertain significance |
| rs139927449 | 2:234,627,519 | T/A | — | uncertain significance |
| rs774756189 | 2:234,627,531 | T/C | — | uncertain significance |
| rs140860588 | 2:234,627,606 | C/T | — | likely benign |
| rs45510694 | 2:234,627,616 | G/C | — | likely benign |
| rs930216391 | 2:234,627,623 | G/T | — | uncertain significance |
| rs200639166 | 2:234,627,624 | C/G | — | uncertain significance |
| rs1226240136 | 2:234,627,633 | A/G | — | uncertain significance |
| rs1450020479 | 2:234,627,723 | A/G | — | uncertain significance |
| rs376370143 | 2:234,627,740 | G/A | — | uncertain significance |
| rs774010631 | 2:234,627,761 | G/C | — | uncertain significance |
| rs764097812 | 2:234,627,800 | A/G | — | uncertain significance |
| rs1202848834 | 2:234,627,814 | T/G | — | uncertain significance |
| rs762367100 | 2:234,627,926 | G/T | — | uncertain significance |
| rs148565852 | 2:234,627,942 | C/T | — | uncertain significance |
| rs1559364966 | 2:234,628,151 | G/T | — | uncertain significance |
| rs757746269 | 2:234,628,165 | T/C | — | likely benign |
| rs377261801 | 2:234,628,177 | G/C | — | uncertain significance |
| rs1369586319 | 2:234,628,211 | G/C | — | likely benign |
| rs749406769 | 2:234,628,217 | T/C | — | likely benign |
| rs574418679 | 2:234,628,269 | C/T | — | uncertain significance |
| rs2076795429 | 2:234,628,328 | T/C | — | uncertain significance |
| rs1255487594 | 2:234,681,025 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.