Details for Gene CYP11A1

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

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