CYP1B1

CYP1B1 is a gene that provides instructions for making an enzyme called cytochrome P450 1B1. This enzyme is part of the cytochrome P450 superfamily, which are enzymes primarily found in the liver that play a role in metabolizing various substances, including hormones, drugs, and environmental toxins. The CYP1B1 enzyme is particularly important for metabolizing a variety of compounds, including steroids and various environmental pollutants. It is expressed in a wide range of tissues, including the liver, lungs, kidneys, and adrenal glands.

Variations, or mutations, in the CYP1B1 gene can lead to reduced or absent activity of the CYP1B1 enzyme. These genetic variations are associated with certain health conditions. Most notably, mutations in CYP1B1 are a common cause of primary congenital glaucoma, a severe form of glaucoma that affects infants. They have also been implicated in other ocular developmental disorders. Research is ongoing to explore the potential role of CYP1B1 variations in susceptibility to certain cancers, such as breast cancer, due to its involvement in steroid metabolism. The exact mechanisms by which CYP1B1 variations contribute to these conditions are still being investigated.