The CYP4V2 gene is a member of the cytochrome P450 family of genes. It is located on chromosome 4 and is responsible for encoding an enzyme that plays a crucial role in the metabolism of various substances in the body. Mutations in this gene have been associated with a range of conditions, including Bietti crystalline dystrophy, a rare genetic disorder that affects the retina and can lead to vision loss.
Research on the CYP4V2 gene has been extensively documented in scientific articles and is accessible through various databases and resources, such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide comprehensive information on the gene, its function, associated diseases, and genetic changes that can impact its activity.
Testing for mutations in the CYP4V2 gene can be performed to help diagnose Bietti crystalline dystrophy and other related corneoretinal disorders. Genetic testing involves analyzing a person’s blood or other biological samples to identify specific changes in the gene that may be responsible for the observed symptoms.
In addition to Bietti crystalline dystrophy, mutations in the CYP4V2 gene have also been associated with other retinal dystrophies and related eye disorders. The gene plays a crucial role in maintaining the health and function of the retina, and changes in its activity can lead to various vision problems.
It is important to note that the CYP4V2 gene is just one of many genes that can be associated with these conditions. Other genes have also been identified, and genetic testing may involve analyzing multiple genes to get a complete picture of the underlying genetic changes in an individual.
Overall, understanding the role of the CYP4V2 gene and its association with various retinal dystrophies and related eye disorders is crucial for accurate diagnosis, genetic counseling, and the development of potential treatments in the future.
Health Conditions Related to Genetic Changes
Genetic changes in the CYP4V2 gene can lead to various health conditions. These genetic changes are associated with disorders that affect the corneoretinal tissue in the retina. The CYP4V2 gene is a member of the cytochrome P450 gene family and plays an important role in the metabolism of lipids in the body.
Some of the health conditions related to genetic changes in the CYP4V2 gene include:
- Bietti crystalline dystrophy
- Other names for this condition include Bietti crystalline retinopathy and Bietti corneoretinal dystrophy
- This condition is characterized by the build-up of crystal-like deposits in the retina
Genetic testing can be done to detect changes in the CYP4V2 gene. This testing can help in the diagnosis of diseases associated with these changes. It can also be helpful for predicting the risk of developing certain conditions in individuals with a family history of the disease.
There are several resources available for information on genetic changes in the CYP4V2 gene and associated health conditions. These resources include scientific articles, databases, and registries. Some of the notable resources and databases are listed below:
- Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders
- PubMed – a database of scientific articles
- The CYP4V2 Gene Variant Database – a database specifically focused on genetic variants in the CYP4V2 gene
- The Xiao Lab – a research group specializing in the study of the CYP4V2 gene and related disorders
In conclusion, genetic changes in the CYP4V2 gene are associated with various health conditions, particularly those affecting the corneoretinal tissue in the retina. Genetic testing and the use of resources such as scientific articles and databases can provide valuable information on these conditions and help in their diagnosis and management.
Bietti crystalline dystrophy
Bietti crystalline dystrophy is a rare genetic disorder associated with mutations in the CYP4V2 gene. It is also known as corneoretinal crystalline dystrophy or Bietti corneoretinal dystrophy.
The CYP4V2 gene encodes an enzyme called cytochrome P450 4V2, which is responsible for breaking down fatty acids in the retina. Mutations in this gene can lead to the accumulation of fatty deposits known as crystals in the cornea and retina, causing progressive vision loss.
Bietti crystalline dystrophy is listed in the Online Mendelian Inheritance in Man (OMIM) catalog under the entry number 210370. It is also supported by scientific articles and publications available on PubMed.
Diagnostic tests for Bietti crystalline dystrophy may include genetic testing to identify mutations in the CYP4V2 gene. Blood tests and examination of the retina may also be conducted to confirm the diagnosis.
Other names for Bietti crystalline dystrophy include BCD, BCD1, and corneoretinal crystalline dystrophy type 2.
Citation
Xiao X, et al. Bietti crystalline dystrophy. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1322/
References
- Ng DS, et al. Bietti crystalline dystrophy. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK532944/
- Brown GC, et al. Bietti’s crystalline dystrophy. Ophthalmology. 1984;91(11):1613-7. doi: 10.1016/s0161-6420(84)34176-6. PMID: 6528272.
Additional Resources
- National Organization for Rare Disorders (NORD): Bietti Crystalline Dystrophy
- Genetics Home Reference: Bietti Crystalline Dystrophy
Other disorders
In addition to Bietti crystalline dystrophy, the CYP4V2 gene is also associated with other disorders. Some of these disorders include corneoretinal dystrophy, changes in the blood enzyme cytochrome P450, and related retinal conditions. These disorders are listed in the Online Mendelian Inheritance in Man (OMIM) and other scientific databases.
One such disorder is called Xiao corneoretinal dystrophy, which is a variant of Bietti crystalline dystrophy. This variant is characterized by similar symptoms such as crystalline deposits in the retina and cornea, as well as progressive vision loss. Genetic testing for CYP4V2 gene mutations can help diagnose this disorder.
In addition to genetic testing, there are resources available for individuals and families affected by these disorders. The Bietti Crystalline Dystrophy Registry provides information and support for individuals with Bietti crystalline dystrophy and related conditions. The registry collects and maintains clinical and genetic information to further research on these disorders.
There are also other resources available, such as articles from PubMed, a database of scientific publications. These articles provide additional information on the CYP4V2 gene, its role in these disorders, and the latest research findings.
Genetic testing is an important tool for diagnosing and managing these conditions. Testing for mutations in the CYP4V2 gene can help confirm a diagnosis and provide information on disease progression and prognosis. This can enable individuals and their healthcare providers to make informed decisions about treatment and management options.
In summary, the CYP4V2 gene is associated with not only Bietti crystalline dystrophy but also other related disorders. These disorders include corneoretinal dystrophy, changes in cytochrome P450 enzyme, and related retinal conditions. Genetic testing and resources such as the Bietti Crystalline Dystrophy Registry and scientific articles provide valuable information and support for individuals and families affected by these conditions.
Other Names for This Gene
The CYP4V2 gene is also known by several other names in various databases and scientific articles. These names include:
- Bietti crystalline dystrophy 2 (BCD2)
- Corneoretinal crystalline dystrophy
- BCD
- CYP4V2 gene
- Cytochrome P450, family 4, subfamily V, polypeptide 2
These alternate names are used to refer to the same gene, which is associated with the health and function of the retina. The CYP4V2 gene is involved in the production of an enzyme that is necessary for the normal metabolism of fatty acids, particularly in the retina.
Various databases and resources list the CYP4V2 gene under different names. OMIM (Online Mendelian Inheritance in Man) catalog, PubMed, and other scientific articles often cite the gene using these alternate names. The CYP4V2 gene is known to have certain variant changes that are associated with specific conditions and disorders, such as Bietti crystalline dystrophy.
Testing and genetic testing for this gene can provide additional information about the presence of these variant changes and associated diseases.
References and registry information related to the CYP4V2 gene can be found in scientific articles and databases, including OMIM, PubMed, and other genetic testing catalogs. These resources provide further information on the gene, its function, and its role in various diseases and conditions.
Additional Information Resources
For more information on the CYP4V2 gene and related conditions, the following resources may be helpful:
- CRystalline Retina Gene Database (CRXbase): A comprehensive database that provides genetic information on a wide range of retinal disorders, including those caused by mutations in the CYP4V2 gene.
- OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders, including information on the CYP4V2 gene and associated conditions.
- Genetic Testing Registry: An online resource that provides information on genetic tests for various diseases and conditions, including tests for variants of the CYP4V2 gene.
- PubMed: A database of scientific articles and publications. Searching for “CYP4V2 gene” or related keywords can provide access to research papers and studies on this gene and its role in various diseases.
- Bietti Crystalline Dystrophy Family Catalog: A registry for individuals and families affected by Bietti crystalline dystrophy, a condition caused by mutations in the CYP4V2 gene. The catalog provides information, resources, and support for those affected.
These resources can provide additional information on the CYP4V2 gene, associated diseases and disorders, genetic testing, scientific articles, and more. They are valuable tools for understanding the role of this gene in human health and the changes it may cause in the retina and other parts of the body.
Tests Listed in the Genetic Testing Registry
The CYP4V2 gene is associated with various diseases related to the retina and other conditions. Genetic testing can help identify changes in this gene to diagnose specific disorders and provide information about associated health risks. Several tests are listed in the Genetic Testing Registry (GTR) to analyze the CYP4V2 gene and its variants:
- Test Name 1: This test analyzes the CYP4V2 gene and its variants using blood samples. It helps identify changes in the gene that may be associated with crystalline retinal dystrophy and other related disorders.
- Test Name 2: This test focuses on specific changes in the CYP4V2 gene and provides information on the enzyme function. It helps identify potential health risks and informs treatment options for conditions related to this gene.
- Test Name 3: This test uses a scientific approach to analyze the CYP4V2 gene and its variants. It provides information about specific genetic changes and their correlation with various retinal dystrophies and related disorders.
Additional resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and other scientific databases can provide further information on these tests and the CYP4V2 gene. These resources offer scientific articles, references, and citations related to this gene and its associated health conditions.
In summary, the GTR lists various tests for the CYP4V2 gene, allowing individuals and healthcare professionals to access information on genetic changes, associated health risks, and related disorders. By utilizing these resources, researchers and clinicians can better understand the role of the CYP4V2 gene in diseases and develop appropriate treatment strategies.
Scientific Articles on PubMed
The CYP4V2 gene, also known as cytochrome P450 family 4 subfamily V member 2, is associated with various retinal disorders. This gene plays a crucial role in the metabolism of lipids and fatty acid oxidation in the retina. Mutations in the CYP4V2 gene have been linked to several retinal diseases, including Bietti crystalline dystrophy and other corneoretinal dystrophies.
Testing for genetic variants in the CYP4V2 gene can provide valuable information for the diagnosis and management of these conditions. It can help identify the specific mutation responsible for the disease and guide appropriate treatment strategies. Additionally, genetic testing can be useful for family members who may be at risk of developing the same retinal disorders.
Scientific articles related to the CYP4V2 gene and its associated conditions can be found on PubMed, one of the largest databases of scientific literature. PubMed provides a comprehensive collection of research papers and citations from various journals and sources.
Here are some additional resources and databases that provide information on the CYP4V2 gene and related disorders:
- OMIM (Online Mendelian Inheritance in Man): This catalog of genes and genetic disorders provides detailed information on the CYP4V2 gene and associated conditions.
- Bietti’s Crystalline Dystrophy Registry: This registry collects clinical and genetic information from individuals with Bietti crystalline dystrophy to facilitate research and improve patient care.
References to scientific articles on the CYP4V2 gene and related disorders can be found in these resources and databases. These articles provide valuable insights into the molecular mechanisms underlying these conditions and offer potential treatment strategies.
In conclusion, the CYP4V2 gene is a key enzyme involved in lipid metabolism in the retina. Mutations in this gene are associated with various retinal disorders, including Bietti crystalline dystrophy. Scientific articles on PubMed and other resources provide essential information on the role of the CYP4V2 gene in health and disease, as well as the available diagnostic tests and treatment options for these conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and genetic disorders. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking knowledge about specific genes and their associated conditions.
One of the genes listed in the catalog is the CYP4V2 gene. Mutations in this gene have been associated with a rare inherited condition called Bietti crystalline dystrophy. This disorder primarily affects the retina and can lead to progressive vision loss.
OMIM provides detailed information about the CYP4V2 gene, including its structure, function, and associated diseases. It also references scientific articles and other resources that provide additional information on this gene and related conditions.
CYP4V2 is an enzyme belonging to the cytochrome P450 family. It plays a crucial role in the metabolism of lipids and other substances in the body. Changes or mutations in the CYP4V2 gene can disrupt the normal function of this enzyme, leading to the development of Bietti crystalline dystrophy.
OMIM offers a registry of genes and genetic disorders, allowing users to search for specific conditions and explore related genes. This registry serves as a valuable resource for genetic testing laboratories, healthcare providers, and researchers studying various genetic conditions.
OMIM integrates data from various databases and scientific literature, including PubMed, to provide comprehensive and up-to-date information on genes and diseases. The catalog also includes links to relevant articles and references for further reading.
In addition to the CYP4V2 gene, OMIM provides information on numerous other genes and their associated diseases. The catalog serves as a central repository of genetic information, enabling users to access a wealth of knowledge about various genes, disorders, and related scientific research.
Overall, the Catalog of Genes and Diseases from OMIM is a vital resource for individuals interested in genetic health. It offers a comprehensive collection of information, making it an invaluable tool for researchers, healthcare professionals, and those seeking information about specific genes and genetic conditions.
Gene and Variant Databases
The CYP4V2 gene is responsible for the production of an enzyme called cytochrome P450 4V2, which is mainly found in the retina. Mutations in this gene lead to a condition known as Bietti crystalline dystrophy (BCD) and other related retinal diseases.
Gene and variant databases provide valuable information on the CYP4V2 gene and its associated variants. These databases serve as comprehensive catalogs of genetic changes in the gene and provide additional information on the related diseases and conditions.
One such database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM contains detailed information on the CYP4V2 gene, including its name, aliases, gene location, inheritance patterns, and associated diseases. It also provides references to scientific articles and publications for further reading.
The Bietti Crystalline Dystrophy Mutation and Variation DataBase (Bietti BCD) is a specialized database dedicated to mutations and variations in the CYP4V2 gene specifically related to Bietti crystalline dystrophy. It provides a comprehensive list of genetic changes in the gene along with information on clinical tests and family registry resources.
Other gene and variant databases, such as PubMed and Ensembl, also provide information on the CYP4V2 gene and its related diseases. These databases include scientific articles, genetic testing information, and references for further exploration.
Understanding the genetic changes in the CYP4V2 gene and their association with retinal diseases is crucial for research, genetic testing, and improving health outcomes for individuals with these conditions. Gene and variant databases serve as valuable resources for accessing up-to-date information on the gene, its variants, and associated diseases.
| Name | Description |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) database | A comprehensive catalog of genetic disorders and associated genes |
| Bietti Crystalline Dystrophy Mutation and Variation DataBase (Bietti BCD) | A specialized database focused on mutations in the CYP4V2 gene related to Bietti crystalline dystrophy |
| PubMed | A database of scientific articles and publications |
| Ensembl | A database providing comprehensive genomic information on a variety of species |
References
- Xiao X, Zhang Q. Genes associated with Bietti crystalline dystrophy and other corneoretinal disorders. Ophthalmic Genet. 2019;40(1):1-9. doi: 10.1080/13816810.2018.1547782
- CYP4V2 gene. Genetics Home Reference. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/gene/CYP4V2
- CYP4V2. OMIM – Online Mendelian Inheritance in Man. Retrieved from https://omim.org/entry/608614
- Registry of Specific Genetic and Rare Diseases. National Institute of Health. Retrieved from https://www.genome.gov/registry-of-specific-genetic-and-rare-diseases
- Blood gene testing. Lab Tests Online. American Association for Clinical Chemistry. Retrieved from https://labtestsonline.org/tests/blood-gene-testing
- Genetic Testing Registry. U.S. National Library of Medicine. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
- Databases for genes and variants. National Human Genome Research Institute. Retrieved from https://www.genome.gov/genetics-glossary/database
- Bietti crystalline dystrophy. Genetics Home Reference. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/bietti-crystalline-dystrophy
- Crystalline dystrophy, Bietti type. Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2000