The Cytochrome P450 proteins are a group of heme thiolate monooxygenases involved in the detoxification of metabolites in the body and synthesis of cholesterol, steroids and other lipids. Cytochrome P4501B1 is one of the most important members of this family of enzymes. This enzyme localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. This protein is also expressed in structures of the eye, specifically in the iris, trabecular meshwork, and ciliary body, and has been shown to be an important participant in eye development.
Mutations in the CYP1B1 gene are responsible for 20 to 40% cases of primary congenital glaucoma (PCG), as well as some cases of juvenile early-onset glaucoma.