Reviewed April 2006
What is the official name of the CYP1B1 gene?
The official name of this gene is “cytochrome P450, family 1, subfamily B, polypeptide 1.”
CYP1B1 is the gene's official symbol. The CYP1B1 gene is also known by other names, listed below.
What is the normal function of the CYP1B1 gene?
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). It 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.
Does the CYP1B1 gene share characteristics with other genes?
The CYP1B1 gene belongs to a family of genes called CYP (cytochrome P450).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the CYP1B1 gene related to health conditions?
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early-onset glaucoma - caused by mutations in the CYP1B1 gene
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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 early-onset glaucoma.
It is not well understood how defects in the CYP1B1 protein cause signs and symptoms of glaucoma. Researchers have suggested that the protein may be involved in a process in the cornea 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.
Researchers have proposed that the CYP1B1 protein may interact with another protein called myocilin. The MYOC gene provides instructions for making myocilin. Individuals with mutations in both the MYOC and CYP1B1 genes may develop glaucoma at an earlier age than do those with mutations in only one of the genes.
- other disorders - caused by mutations in the CYP1B1 gene
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Some cases of Peters anomaly are caused by mutations in the CYP1B1 gene. Peters anomaly is a developmental condition in which the cornea, the normally clear covering over the front of the eye, 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.
Where is the CYP1B1 gene located?
Cytogenetic Location: 2p21
Molecular Location on chromosome 2: base pairs 38,148,249 to 38,156,795
The CYP1B1 gene is located on the short (p) arm of chromosome 2 at position 21.
More precisely, the CYP1B1 gene is located from base pair 38,148,249 to base pair 38,156,795 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CYP1B1?
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
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OMIM - Genetic disorder catalog (2 links)
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What other names do people use for the CYP1B1 gene or gene products?
- aryl hydrocarbon hydroxylase
- CP1B
- CP1B1_HUMAN
- cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)
- flavoprotein-linked monooxygenase
- GLC3A
- microsomal monooxygenase
- xenobiotic monooxygenase
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CYP1B1?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.