CYP2F1
Description
The CYP2F1 (cytochrome P450 family 2 subfamily F member 1) is a protein-coding gene located on chromosome 19.
CYP2F1 is a human protein encoded by the CYP2F1 gene. It is a member of the cytochrome P450 superfamily of enzymes, which are monooxygenases involved in drug metabolism and the synthesis of cholesterol, steroids, and other lipids. CYP2F1 localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin produced by tryptophan fermentation, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. The CYP2F1 gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B, and CYP2F subfamilies on chromosome 19q.
CYP2F1 is involved in the metabolism of various pneumotoxicants, including naphthalene. It can dealkylate ethoxycoumarin, propoxycoumarin, and pentoxyresorufin, but it lacks activity towards ethoxyresorufin and shows only minimal dearylation activity toward benzyloxyresorufin. CYP2F1 bioactivates 3-methylindole (3MI) by dehydrogenation, converting it to the potential electrophile 3-methylene-indolenine.
CYP2F1 is also known as C2F1, CYP2F, CYPIIF1.
Associated Diseases
- endometrial cancer
- urinary bladder cancer
- glycoprotein storage disease
- hemoglobin H disease
- hemoglobin C-beta-thalassemia syndrome
- combined immunodeficiency due to OX40 deficiency
- dominant beta-thalassemia
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- erythroleukemia, familial, susceptibility to
- hereditary neutrophilia
- hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- cryohydrocytosis
