Details for Gene CYP1B1

GENE NAME CYP1B1
CHROMOSOME 2
ENSEMBL ID ENSG00000138061
ENTREZ ID 1545
UNIPROT ACCESSION NUMBER Q16678
GO MOLECULAR FUNCTION oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; monooxygenase activity; heme binding; iron ion binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa00980; hsa05204; R-HSA-5579000; R-HSA-2142753; hsa00380; R-HSA-211945; hsa05206; hsa00140; R-HSA-556833; hsa04913; hsa05204; R-HSA-1430728; R-HSA-2142816; hsa00980; R-HSA-5668914; hsa04913; hsa00140; hsa05206; R-HSA-1643685; R-HSA-2142670; R-HSA-5579029; R-HSA-8978868; hsa00380; R-HSA-211897; R-HSA-211859; R-HSA-211976
8 combinations linked to CYP1B1 OLI010; OLI460; OLI012; OLI767; OLI011; OLI169; OLI009; OLI768
6 variants linked to CYP1B1 CYP1B1:p.Ala115Pro; CYP1B1:c.1103G>A, p.Arg368His; CYP1B1:c.685G>A, p.Glu229Lys; CYP1B1:c.535del, p.Ala179ArgfsTer18; CYP1B1:c.1159G>A, p.Glu387Lys; CYP1B1:c.517G>T, p.Glu173Ter
2 diseases linked to CYP1B1 Congenital glaucoma; Juvenile glaucoma
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