CYP3A5
cytochrome P450 family 3 subfamily A member 5
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs15524 | 7:99,245,914 | A/G | 3 prime UTR variant | — |
| rs28365085 | 7:99,245,974 | A/G | missense variant | — |
| rs559863537 | 7:99,246,004 | G/A | — | uncertain significance |
| rs28365069 | 7:99,246,026 | A/G | — | benign |
| rs1450116579 | 7:99,247,712 | G/T | — | uncertain significance |
| rs41279854 | 7:99,247,772 | A/G | missense variant | — |
| rs1809028664 | 7:99,247,778 | A/G | — | uncertain significance |
| rs1056725668 | 7:99,250,186 | G/A | — | uncertain significance |
| rs1584406744 | 7:99,250,223 | G/A | — | likely benign |
| rs28365083 | 7:99,250,236 | G/T | missense variant | — |
| rs200628208 | 7:99,250,238 | T/G | — | likely benign |
| rs751832206 | 7:99,250,255 | A/G | — | uncertain significance |
| rs765108001 | 7:99,250,264 | G/A | — | not provided |
| rs1809307393 | 7:99,250,287 | A/G | — | uncertain significance |
| rs1363320186 | 7:99,250,389 | T/C | — | uncertain significance |
| rs76293380 | 7:99,250,394 | — | — | — |
| rs1196672648 | 7:99,250,398 | G/T | — | uncertain significance |
| rs12334072 | 7:99,251,707 | A/T | — | — |
| rs7780328 | 7:99,256,844 | A/C | — | — |
| rs187886967 | 7:99,257,503 | C/T | intron variant | — |
| rs28383479 | 7:99,258,139 | C/T | missense variant | — |
| rs773030212 | 7:99,258,142 | C/A | — | uncertain significance |
| rs766695006 | 7:99,258,222 | G/T | — | uncertain significance |
| rs755596838 | 7:99,258,253 | A/C | — | uncertain significance |
| rs4646453 | 7:99,260,362 | C/A | intron variant | — |
| rs754237133 | 7:99,260,632 | C/T | — | likely benign |
| rs376773432 | 7:99,261,610 | C/T | — | uncertain significance |
| rs2485385270 | 7:99,261,624 | T/A | — | likely benign |
| rs41303343 | 7:99,262,835 | T/ins | frameshift | — |
| rs56411402 | 7:99,262,860 | T/C | missense variant | — |
| rs2485406699 | 7:99,262,884 | T/C | — | uncertain significance |
| rs139951597 | 7:99,264,240 | G/A | — | uncertain significance |
| rs752110760 | 7:99,264,291 | A/G | — | uncertain significance |
| rs55965422 | 7:99,264,573 | A/G | splice region variant | — |
| rs199866223 | 7:99,264,648 | A/G | — | uncertain significance |
| rs41279857 | 7:99,270,222 | G/T | missense variant | likely benign |
| rs759099183 | 7:99,270,244 | C/A | — | uncertain significance |
| rs56244447 | 7:99,270,276 | A/C | missense variant | — |
| rs1811815021 | 7:99,270,537 | T/C | — | uncertain significance |
| rs776746 | 7:99,270,539 | A/G | splice variant | risk factor |
| rs10264272 | 7:99,270,868 | C/T | splice variant | likely benign |
| rs72552791 | 7:99,273,745 | T/C | missense variant | — |
| rs1241244504 | 7:99,273,746 | A/G | — | uncertain significance |
| rs150999943 | 7:99,273,765 | C/A | — | likely benign |
| rs28383468 | 7:99,273,815 | G/A | missense variant | likely benign |
| rs55817950 | 7:99,273,821 | G/A | missense variant | — |
| rs115267978 | 7:99,273,942 | G/A | — | benign |
| rs111960361 | 7:99,273,983 | A/G | — | likely benign |
| rs369170873 | 7:99,277,497 | G/A | — | uncertain significance |
| rs28371764 | 7:99,277,593 | G/A | — | likely benign |
| rs28365095 | 7:99,277,605 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.