GENE NAME | CYP11A1 |
CHROMOSOME | 15 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000140459 |
UNIPROT ACCESSION NUMBER | P05108 |
GO MOLECULAR FUNCTION | ['cholesterol monooxygenase (side-chain-cleaving) activity', 'iron ion binding', 'heme binding', 'protein binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa00140; hsa01100; hsa04913; hsa04925; hsa04927; hsa04934; hsa00140; hsa01100; hsa04913; hsa04925; hsa04927; hsa04934; R-HSA-1430728; R-HSA-1643685; R-HSA-196071; R-HSA-196108; R-HSA-211859; R-HSA-211897; R-HSA-211945; R-HSA-211976; R-HSA-556833; R-HSA-5579026; R-HSA-5579029; R-HSA-5668914; R-HSA-8957322 |
1 combination linked to CYP11A1 | OLI1372 |
1 variant linked to CYP11A1 | CYP11A1:c.940G>A, p.Glu314Lys |
1 disease linked to CYP11A1 | Primary adrenal insufficiency |