| GENE NAME | CYP7A1 |
| CHROMOSOME | 8 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000167910 |
| UNIPROT ACCESSION NUMBER | P22680 |
| GO MOLECULAR FUNCTION | ['cholesterol 7-alpha-monooxygenase activity', 'iron ion binding', 'heme binding', 'steroid hydroxylase activity', '24-hydroxycholesterol 7alpha-hydroxylase activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa00120; hsa00140; hsa01100; hsa03320; hsa04976; hsa04979; R-HSA-1430728; R-HSA-192105; R-HSA-193368; R-HSA-193807; R-HSA-194068; R-HSA-1989781; R-HSA-211859; R-HSA-211897; R-HSA-211945; R-HSA-211976; R-HSA-400206; R-HSA-556833; R-HSA-8957322 |
| 2 combinations linked to CYP7A1 | OLI1305; OLI1304 |
| 1 variant linked to CYP7A1 | CYP7A1:c.1192C>G, p.Pro398Ala |
| 1 disease linked to CYP7A1 | NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia |