CYP1B1

CYP1B1 is a gene that encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons.

Function

The CYP1B1 gene belongs to the cytochrome P450 family. The enzymes produced by these genes are involved in the synthesis of cholesterol, steroids, and other lipids. They also play a role in drug metabolism. The CYP1B1 enzyme is found in the endoplasmic reticulum, a part of the cell where protein synthesis occurs. It is particularly involved in the metabolism of procarcinogens, which are substances that become carcinogenic when metabolized by the body.

Clinical significance

Mutations in the CYP1B1 gene have been associated with primary congenital glaucoma. This condition is characterized by an increase in eye pressure, which can lead to damage to the optic nerve and vision loss. The CYP1B1 gene mutations that cause primary congenital glaucoma result in the production of an enzyme with reduced function. This leads to an accumulation of certain toxic substances in the eye, which can damage the eye's drainage system and increase pressure.

See also

• Cytochrome P450
• Glaucoma
• Endoplasmic reticulum