CYP8B1
cytochrome P450 family 8 subfamily B member 1
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 endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3732860 | 3:42,914,012 | T/A | — | — |
| rs3732861 | 3:42,914,325 | G/A | intron variant | — |
| rs2888272 | 3:42,914,877 | C/G | intron variant | — |
| rs370477226 | 3:42,915,982 | T/C | — | uncertain significance |
| rs138292874 | 3:42,916,001 | G/T | — | likely benign |
| rs1024381303 | 3:42,916,016 | C/T | — | uncertain significance |
| rs770317982 | 3:42,916,035 | T/A | — | uncertain significance |
| rs147356860 | 3:42,916,064 | C/T | — | likely benign |
| rs112066175 | 3:42,916,105 | C/T | — | benign |
| rs2528602655 | 3:42,916,120 | G/A | — | uncertain significance |
| rs543245438 | 3:42,916,135 | T/C | — | likely benign |
| rs200069231 | 3:42,916,146 | A/G | — | uncertain significance |
| rs766489047 | 3:42,916,180 | G/A | — | uncertain significance |
| rs61747186 | 3:42,916,238 | G/A | — | benign |
| rs35637877 | 3:42,916,240 | G/A | — | benign |
| rs2528602918 | 3:42,916,245 | G/T | — | uncertain significance |
| rs528095572 | 3:42,916,264 | G/A | — | uncertain significance |
| rs741817 | 3:42,916,511 | C/A | — | benign |
| rs201337575 | 3:42,916,530 | T/A | — | uncertain significance |
| rs778677576 | 3:42,916,585 | C/T | — | uncertain significance |
| rs35764459 | 3:42,916,596 | T/C | — | benign |
| rs200599611 | 3:42,916,617 | C/T | — | uncertain significance |
| rs767077522 | 3:42,916,620 | C/T | — | uncertain significance |
| rs765009627 | 3:42,916,711 | C/T | — | uncertain significance |
| rs1206444802 | 3:42,916,715 | C/A | — | uncertain significance |
| rs367884893 | 3:42,916,750 | C/G | — | uncertain significance |
| rs369981775 | 3:42,916,835 | A/T | — | uncertain significance |
| rs79095506 | 3:42,916,879 | G/A | — | benign |
| rs1253804830 | 3:42,916,933 | C/T | — | uncertain significance |
| rs751384966 | 3:42,916,958 | T/G | — | uncertain significance |
| rs9865715 | 3:42,917,047 | A/T | missense variant | — |
| rs200274344 | 3:42,917,071 | C/T | — | uncertain significance |
| rs2528605037 | 3:42,917,097 | T/A | — | uncertain significance |
| rs1449393062 | 3:42,917,148 | A/G | — | uncertain significance |
| rs752943106 | 3:42,917,200 | T/C | — | uncertain significance |
| rs373922271 | 3:42,917,227 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.