CYP1B1

The CYP1B1 gene provides instructions for producing a form of the cytochrome P450 protein. This protein is a member of a large family of enzymes involved in many processes in the body, such as assisting with reactions that break down drugs and helping to produce certain fats (lipids). The CYP1B1 protein participates in biochemical reactions in which it helps to add an oxygen atom to other molecules.

CYP1B1 is active in many tissues of the body, including the trabecular meshwork, ciliary body, and other structures of the eye. Its role in the development or function of the eye, however, is not well understood.

early-onset glaucoma - caused by mutations in the CYP1B1 gene

Between 20 percent and 40 percent of people with primary congenital glaucoma have mutations in the CYP1B1 gene. CYP1B1 mutations have also been detected in some people with juvenile open-angle glaucoma. More than 60 CYP1B1 mutations have been identified; these mutations may result in a protein that is unstable or the wrong shape.

It is not well understood how defects in the CYP1B1 protein cause signs and symptoms of glaucoma. Recent studies suggest that the defects may interfere with the early development of the trabecular meshwork. In the clear covering of the eye (the cornea), the CYP1B1 protein may also be involved in a process that regulates the secretion of fluid inside the eye. If this fluid is produced in excess, the high intraocular pressure characteristic of glaucoma may develop.

The CYP1B1 protein may interact with another protein called myocilin, which is produced from the MYOC gene. Individuals with mutations in both the MYOC and CYP1B1 genes may develop glaucoma at an earlier age and have more severe symptoms than do those with mutations in only one of the genes.

other disorders - caused by mutations in the CYP1B1 gene

Some cases of Peters anomaly are caused by mutations in the CYP1B1 gene. Peters anomaly is a developmental condition in which the cornea is opaque. In some cases the lens of the eye may be cloudy, a condition called a cataract.

Mutations in several other genes have also been shown to cause Peters anomaly. This condition is often associated with disorders that cause characteristic problems in several systems of the body, called syndromes.