The CYP1B1 gene provides instructions for producing an enzyme that is a member of the cytochrome P450 family of enzymes. These enzymes are involved in many processes in the body, such as assisting with reactions that break down drugs and produce certain fats (lipids). The CYP1B1 enzyme participates in biochemical reactions in which an oxygen atom is added to other molecules.
The CYP1B1 enzyme is active in many tissues, including structures of the eye. The function of the CYP1B1 enzyme in the development of the eye is unclear, but it may play a role in forming structures at the front of the eye and may also be involved in a process that regulates the secretion of fluid inside the eye.
Health Conditions Related to Genetic Changes
More than 140 CYP1B1 gene variants (also called mutations) have been identified to cause early-onset glaucoma. People with this condition experience increased pressure within the eye before the age of 40. This pressure causes damage to the optic nerves connecting the eyes and the brain. Between 20 percent and 40 percent of people with glaucoma before the age of 3 (primary congenital glaucoma) have variants in the CYP1B1 gene. The variants that cause early-onset glaucoma may result in an enzyme that is unstable or the wrong shape.
It is not well understood how changes in the CYP1B1 enzyme cause signs and symptoms of glaucoma. Recent studies suggest that the defects may interfere with the early development of the trabecular meshwork, which is a network of mesh-like canals that helps drain excess fluid from the eye. If fluid cannot be drained, pressure inside the eye may increase, which is characteristic of glaucoma.More About This Health Condition
A few variants in the CYP1B1 gene have been found to cause Peters anomaly. This condition is characterized by abnormal development of certain structures at the front of the eye and clouding of the clear front surface of the eye (cornea). The variants that cause Peters anomaly likely impair the normal function of the CYP1B1 enzyme or disrupt enzyme production. As a result, there is a shortage (deficiency) of normal enzyme. A lack of the CYP1B1 enzyme likely disrupts normal development of the eye, although it is unclear exactly how this deficiency leads to the features of Peters anomaly.More About This Health Condition
Other Names for This Gene
- aryl hydrocarbon hydroxylase
- cytochrome P450, family 1, subfamily B, polypeptide 1
- cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)
- flavoprotein-linked monooxygenase
- microsomal monooxygenase
- xenobiotic monooxygenase
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Achary MS, Reddy AB, Chakrabarti S, Panicker SG, Mandal AK, Ahmed N, Balasubramanian D, Hasnain SE, Nagarajaram HA. Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. Biophys J. 2006 Dec 15;91(12):4329-39. doi: 10.1529/biophysj.106.085498. Epub 2006 Sep 8. Citation on PubMed or Free article on PubMed Central
- Chavarria-Soley G, Sticht H, Aklillu E, Ingelman-Sundberg M, Pasutto F, Reis A, Rautenstrauss B. Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat. 2008 Sep;29(9):1147-53. doi: 10.1002/humu.20786. Citation on PubMed
- Chen Y, Jiang D, Yu L, Katz B, Zhang K, Wan B, Sun X. CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Arch Ophthalmol. 2008 Oct;126(10):1443-7. doi: 10.1001/archopht.126.10.1443. Citation on PubMed
- Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet. 2004 Sep;41(9):647-51. doi: 10.1136/jmg.2004.020024. Citation on PubMed or Free article on PubMed Central
- Selvan H, Gupta S, Wiggs JL, Gupta V. Juvenile-onset open-angle glaucoma - A clinical and genetic update. Surv Ophthalmol. 2022 Jul-Aug;67(4):1099-1117. doi: 10.1016/j.survophthal.2021.09.001. Epub 2021 Sep 16. Citation on PubMed
- Vasiliou V, Gonzalez FJ. Role of CYP1B1 in glaucoma. Annu Rev Pharmacol Toxicol. 2008;48:333-58. doi: 10.1146/annurev.pharmtox.48.061807.154729. Citation on PubMed
- Vincent A, Billingsley G, Priston M, Glaser T, Oliver E, Walter M, Ritch R, Levin A, Heon E. Further support of the role of CYP1B1 in patients with Peters anomaly. Mol Vis. 2006 May 16;12:506-10. Citation on PubMed