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Genetics Home Reference: your guide to understanding genetic conditions
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CYP1B1

Reviewed February 2009

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). The CYP1B1 protein participates in biochemical reactions in which it helps to add an oxygen atom to other molecules.

The CYP1B1 protein 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? (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

Between 20 percent and 40 percent of people with primary congenital glaucoma have mutations in the CYP1B1 gene. CYP1B1 gene mutations have also been detected in some people with juvenile open-angle glaucoma. More than 60 CYP1B1 gene 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.

Where is the CYP1B1 gene located?

Cytogenetic Location: 2p22.2

Molecular Location on chromosome 2: base pairs 38,294,745 to 38,303,322

The CYP1B1 gene is located on the short (p) arm of chromosome 2 at position 22.2.

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 38,294,745 to base pair 38,303,322 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=(CYP1B1%5BTIAB%5D)%20AND%20((cytochrome%20p-450%20cyp1b1%5BNM%5D)%20OR%20(cyp1b1%5BNM%5D)%20OR%20(cytochrome%20p450%20cyp1b1%5BNM%5D)%20OR%20(estrogen%204-hydroxylase%5BNM%5D)%20OR%20(eds-4-hydroxylase%5BNM%5D)%20OR%20(cytochrome%20p4501b1%5BNM%5D)%20OR%20(estradiol%2017-sulfate%204-hydroxylase%5BNM%5D)%20OR%20(estradiol-4-hydroxylase%5BNM%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)

  • OMIM - Genetic disorder catalog

    • CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1 (http://omim.org/entry/601771)
    • PETERS ANOMALY (http://omim.org/entry/604229)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CYP1B1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1545)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1545)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2597)

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

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?

atom ; cataract ; ciliary body ; congenital ; cornea ; cytochrome P450 ; gene ; glaucoma ; intraocular ; juvenile ; opaque ; oxygen ; protein ; secretion ; trabecular meshwork ; xenobiotic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay AK, Daulat Thakur SK, Bhaduri G, Sen A, Ray K. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis. 2006 Apr 20;12:399-404. (http://www.ncbi.nlm.nih.gov/pubmed/16688110?dopt=Abstract)
  • 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)
  • Choudhary D, Jansson I, Sarfarazi M, Schenkman JB. Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. Pharmacogenet Genomics. 2008 Aug;18(8):665-76. doi: 10.1097/FPC.0b013e3282ff5a36. (http://www.ncbi.nlm.nih.gov/pubmed/18622259?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1545)
  • Firasat S, Riazuddin SA, Khan SN, Riazuddin S. Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. Mol Vis. 2008;14:2002-9. Epub 2008 Nov 3. (http://www.ncbi.nlm.nih.gov/pubmed/18989382?dopt=Abstract)
  • Ho CL, Walton DS. Primary congenital glaucoma: 2004 update. J Pediatr Ophthalmol Strabismus. 2004 Sep-Oct;41(5):271-88; quiz 300-1. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15478740?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)
  • Ohtake Y, Tanino T, Suzuki Y, Miyata H, Taomoto M, Azuma N, Tanihara H, Araie M, Mashima Y. Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma. Br J Ophthalmol. 2003 Mar;87(3):302-4. (http://www.ncbi.nlm.nih.gov/pubmed/12598442?dopt=Abstract)
  • OMIM: CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1 (http://omim.org/entry/601771)
  • OMIM: PETERS ANOMALY (http://omim.org/entry/604229)
  • 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 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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2009
Published: May 20, 2013