CYP4A11
cytochrome P450 family 4 subfamily A member 11
Pharmacogene
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. This protein localizes to the endoplasmic reticulum and hydroxylates medium-chain fatty acids such as laurate and myristate. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3899049 | 1:46,934,207 | T/C | missense variant | — |
| rs11211405 | 1:47,395,347 | T/G | — | — |
| rs139114509 | 1:47,395,812 | G/C | — | uncertain significance |
| rs765836836 | 1:47,395,834 | G/C | — | uncertain significance |
| rs1333769898 | 1:47,395,873 | C/A | — | uncertain significance |
| rs9333036 | 1:47,395,886 | G/A | — | benign |
| rs1126743 | 1:47,395,973 | G/C | missense variant | — |
| rs9333029 | 1:47,396,162 | A/G | intron variant | — |
| rs9333025 | 1:47,396,903 | C/T | regulatory region variant | — |
| rs1126742 | 1:47,398,496 | A/G | missense variant | — |
| rs3890011 | 1:47,398,743 | G/C | intron variant | — |
| rs778007925 | 1:47,399,651 | C/A | — | uncertain significance |
| rs58590117 | 1:47,399,686 | G/A | — | uncertain significance |
| rs144597719 | 1:47,399,851 | G/A | — | uncertain significance |
| rs769099199 | 1:47,399,855 | T/G | — | uncertain significance |
| rs2521630114 | 1:47,399,869 | C/T | — | uncertain significance |
| rs779248380 | 1:47,399,915 | G/T | — | uncertain significance |
| rs377315921 | 1:47,399,950 | C/A | — | uncertain significance |
| rs1488482611 | 1:47,399,966 | C/T | — | uncertain significance |
| rs28451040 | 1:47,399,967 | G/T | missense variant | — |
| rs759038433 | 1:47,400,001 | C/T | — | uncertain significance |
| rs758130015 | 1:47,400,209 | C/G | — | uncertain significance |
| rs1189078901 | 1:47,400,714 | G/A | — | uncertain significance |
| rs370227361 | 1:47,400,731 | C/T | — | uncertain significance |
| rs147970101 | 1:47,400,750 | G/C | — | uncertain significance |
| rs752955975 | 1:47,400,803 | G/C | — | uncertain significance |
| rs7530935 | 1:47,401,023 | T/C | regulatory region variant | — |
| rs775527556 | 1:47,401,209 | G/T | — | uncertain significance |
| rs144945108 | 1:47,401,282 | A/G | — | uncertain significance |
| rs2269231 | 1:47,401,424 | A/T | — | — |
| rs753277901 | 1:47,402,337 | A/G | — | uncertain significance |
| rs202214253 | 1:47,402,416 | G/A | — | uncertain significance |
| rs781570724 | 1:47,403,015 | G/A | — | uncertain significance |
| rs369635654 | 1:47,403,659 | C/T | — | benign |
| rs762642639 | 1:47,403,737 | G/T | — | uncertain significance |
| rs922753951 | 1:47,403,745 | G/C | — | uncertain significance |
| rs146942170 | 1:47,403,746 | G/C | — | uncertain significance |
| rs201585437 | 1:47,403,785 | G/A | — | uncertain significance |
| rs747499896 | 1:47,403,803 | G/T | — | likely benign |
| rs9332998 | 1:47,404,186 | T/C | intron variant | — |
| rs745767999 | 1:47,406,984 | C/T | — | uncertain significance |
| rs761075285 | 1:47,406,986 | G/A | — | likely benign |
| rs9332978 | 1:47,407,950 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.