Reviewed January 2014
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 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.
Does the CYP1B1 gene share characteristics with other genes?
The CYP1B1 gene belongs to a family of genes called CYP (cytochrome P450s).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the CYP1B1 gene related to health conditions?
- early-onset glaucoma - caused by mutations in the CYP1B1 gene
More than 140 CYP1B1 gene 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 5 (primary congenital glaucoma) have mutations in the CYP1B1 gene. The mutations that cause early-onset glaucoma may result in an enzyme that is unstable or the wrong shape.
It is not well understood how defects 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.
The CYP1B1 enzyme 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.
- Peters anomaly - caused by mutations in the CYP1B1 gene
A few mutations 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 mutations 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.
Where is the CYP1B1 gene located?
Cytogenetic Location: 2p22.2
Molecular Location on chromosome 2: base pairs 38,067,602 to 38,076,180
The CYP1B1 gene is located on the short (p) arm of chromosome 2 at position 22.2.
More precisely, the CYP1B1 gene is located from base pair 38,067,602 to base pair 38,076,180 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about CYP1B1?
You and your healthcare professional may find the following resources about CYP1B1 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1135)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CYP1B1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1545%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28CYP1B1%5BTIAB%5D%29%20AND%20%28%28cytochrome%20p-450%20cyp1b1%5BNM%5D%29%20OR%20%28cyp1b1%5BNM%5D%29%20OR%20%28cytochrome%20p450%20cyp1b1%5BNM%5D%29%20OR%20%28estrogen%204-hydroxylase%5BNM%5D%29%20OR%20%28eds-4-hydroxylase%5BNM%5D%29%20OR%20%28cytochrome%20p4501b1%5BNM%5D%29%20OR%20%28estradiol%2017-sulfate%204-hydroxylase%5BNM%5D%29%20OR%20%28estradiol-4-hydroxylase%5BNM%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/601771)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CYP1B1.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1545)
- HGNC Gene Family: Cytochrome P450s (http://www.genenames.org/genefamilies/CYP)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=2597)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1545)
What other names do people use for the CYP1B1 gene or gene products?
- aryl hydrocarbon hydroxylase
- cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)
- flavoprotein-linked monooxygenase
- microsomal monooxygenase
- xenobiotic monooxygenase
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding CYP1B1?
cytochrome P450 ;
trabecular meshwork ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. Epub 2006 Sep 8. (http://www.ncbi.nlm.nih.gov/pubmed/16963504?dopt=Abstract)
- Bayat B, Yazdani S, Alavi A, Chiani M, Chitsazian F, Tusi BK, Suri F, Narooie-Nejhad M, Sanati MH, Elahi E. Contributions of MYOC and CYP1B1 mutations to JOAG. Mol Vis. 2008 Mar 13;14:508-17. (http://www.ncbi.nlm.nih.gov/pubmed/18385784?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/18470941?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/18852424?dopt=Abstract)
- OMIM: CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1 (http://omim.org/entry/601771)
- Edward D, Al Rajhi A, Lewis RA, Curry S, Wang Z, Bejjani B. Molecular basis of Peters anomaly in Saudi Arabia. Ophthalmic Genet. 2004 Dec;25(4):257-70. (http://www.ncbi.nlm.nih.gov/pubmed/15621878?dopt=Abstract)
- Melki R, Colomb E, Lefort N, Brézin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet. 2004 Sep;41(9):647-51. (http://www.ncbi.nlm.nih.gov/pubmed/15342693?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1545)
- Ray K, Mukhopadhyay A, Acharya M. Recent advances in molecular genetics of glaucoma. Mol Cell Biochem. 2003 Nov;253(1-2):223-31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14619973?dopt=Abstract)
- Vasiliou V, Gonzalez FJ. Role of CYP1B1 in glaucoma. Annu Rev Pharmacol Toxicol. 2008;48:333-58. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17914928?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/16735991?dopt=Abstract)
- Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, Héon E. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet. 2001 May;38(5):324-6. (http://www.ncbi.nlm.nih.gov/pubmed/11403040?dopt=Abstract)
- Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Héon E. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet. 2002 Feb;70(2):448-60. Epub 2002 Jan 3. (http://www.ncbi.nlm.nih.gov/pubmed/11774072?dopt=Abstract)
- Weisschuh N, Schiefer U. Progress in the genetics of glaucoma. Dev Ophthalmol. 2003;37:83-93. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12876831?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.