The CYP11B2 gene is responsible for encoding the cytochrome P450 aldosterone synthase enzyme. This enzyme is essential for the synthesis of aldosterone, a hormone that plays a critical role in maintaining electrolyte and fluid balance in the body.
Alterations in the CYP11B2 gene have been associated with a variety of health conditions and disorders, including familial hyperaldosteronism and hypertension. Mutations or changes in the gene’s promoter region can lead to excessive production of aldosterone, resulting in hypertension and other related problems.
Genetic testing for variants in the CYP11B2 gene can be used to diagnose these disorders and to provide additional information about an individual’s risk for stroke and other cardiovascular diseases. Testing for this gene can be performed through specialized laboratories and genetic testing companies.
References to the CYP11B2 gene and its related diseases can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide a wealth of information about the gene, its associated disorders, and the available testing options.
Understanding the CYP11B2 gene and its role in aldosterone synthesis is crucial for identifying and managing conditions related to aldosterone deficiency or excessive production. Ongoing research and advances in genetic testing continue to expand our knowledge of this gene and its impact on health and disease.
Health Conditions Related to Genetic Changes
Genetic changes in the CYP11B2 gene can lead to various health conditions. These changes can affect the function of the enzyme aldosterone synthase, also known as cytochrome P450c11AS or 11β-hydroxylase, which is encoded by the CYP11B2 gene. The aldosterone synthase enzyme is involved in the production of aldosterone, a hormone that regulates blood pressure and electrolyte balance.
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Some of the health conditions related to genetic changes in the CYP11B2 gene include:
- Familial hyperaldosteronism, a genetic disorder characterized by increased production of aldosterone, leading to excessive aldosterone levels in the body. This condition can result in hypertension and cardiovascular problems.
- Genetic changes in other genes involved in the aldosterone synthesis pathway, such as CYP11B1, can also contribute to familial hyperaldosteronism. Testing for genetic changes in these genes can help diagnose the condition and guide treatment decisions.
- Stroke and other cardiovascular conditions can be associated with genetic changes in the CYP11B2 gene.
Resources such as the Online Mendelian Inheritance in Man (OMIM) database, scientific articles listed on PubMed, and genetic testing can provide additional information on these health conditions and the genetic changes associated with them.
The OMIM database contains a catalog of genetic disorders and the associated genes, enzymes, and mutations. It provides detailed information on the characteristics, inheritance patterns, and testing options for these conditions.
In addition to OMIM, genetic testing laboratories and registries also provide information on genetic changes related to health conditions. Testing for specific variants in the CYP11B2 gene or other genes involved in aldosterone synthesis can help confirm a diagnosis or assess the risk of developing certain conditions.
Genetic changes in the promoter region of the CYP11B2 gene can affect its expression and lead to alterations in aldosterone production. Studying these changes can provide insights into the regulation of aldosterone synthesis and its impact on health.
Overall, understanding the genetic changes in the CYP11B2 gene and related genes can contribute to the identification, management, and treatment of various health conditions, particularly those involving excessive aldosterone production, hypertension, and cardiovascular problems.
Corticosterone methyloxidase deficiency
Corticosterone methyloxidase deficiency, also known as cytochrome P450 11B2 deficiency, is a genetic disorder that affects the CYP11B2 gene. This gene is responsible for producing an enzyme called corticosterone methyloxidase, which is involved in the production of aldosterone, a hormone that regulates sodium and potassium levels in the body.
Individuals with corticosterone methyloxidase deficiency have mutations in the CYP11B2 gene that impair the production or function of the enzyme. This leads to a decrease in aldosterone production and can result in a variety of health problems.
One of the primary symptoms of corticosterone methyloxidase deficiency is hypertension, or high blood pressure. This is often accompanied by low potassium levels in the blood. Other symptoms may include muscle weakness, fatigue, and frequent urination. In severe cases, corticosterone methyloxidase deficiency can lead to stroke or other cardiovascular disorders.
Diagnosis of corticosterone methyloxidase deficiency is typically done through genetic testing. There are several tests available that can identify mutations in the CYP11B2 gene. These tests can be performed on a blood sample and can help confirm the diagnosis of corticosterone methyloxidase deficiency.
There is currently no cure for corticosterone methyloxidase deficiency. Treatment options focus on managing symptoms and preventing complications. This may include medication to help regulate blood pressure and potassium levels, as well as dietary changes.
For individuals with corticosterone methyloxidase deficiency and their families, it is important to seek support and information from reputable resources. There are several databases and registries that contain information on genetic disorders and related conditions, such as the Online Mendelian Inheritance in Man (OMIM) catalog. Additionally, scientific journals and publications can provide additional information and references for further research.
Familial hyperaldosteronism
Familial hyperaldosteronism is a rare genetic disorder characterized by excessive production of aldosterone, a hormone that regulates salt and water balance in the body. This condition is caused by mutations in genes involved in the production of aldosterone, particularly the CYP11B2 gene.
The CYP11B2 gene encodes an enzyme called aldosterone synthase, which is responsible for the final steps in the production of aldosterone. Mutations in this gene can result in increased production of aldosterone, leading to excessive salt and water retention and hypertension (high blood pressure).
There are several subtypes of familial hyperaldosteronism, each associated with different genetic mutations. Subtypes 1 and 2 are caused by mutations in the CYP11B1 and CYP11B2 genes, respectively. These genes are located in a region of the genome known as the cytochrome P450 gene cluster, which contains several other genes involved in steroid hormone production.
Diagnosis of familial hyperaldosteronism involves genetic testing to identify mutations in the CYP11B2 gene or other genes related to aldosterone production. Additionally, tests such as blood and urine tests, imaging studies, and hormone stimulation tests can help evaluate aldosterone levels and rule out other causes of hypertension.
Treatment for familial hyperaldosteronism may involve medications to lower blood pressure and control aldosterone production, such as aldosterone receptor antagonists or mineralocorticoid receptor antagonists. In severe cases, surgery to remove the affected adrenal gland may be necessary. Regular monitoring and management of blood pressure are important to prevent complications such as stroke and cardiovascular problems.
For additional information on familial hyperaldosteronism, the following resources may be helpful:
- PubMed: A scientific database containing articles on genetic disorders and related topics.
- OMIM: An online catalog of human genes and genetic disorders.
- National Registry of Genetic Disorders: A registry of families with genetic disorders and information on available resources.
- Familial Hyperaldosteronism Gene Database: A database of genetic changes associated with familial hyperaldosteronism.
Other disorders
Along with hyperaldosteronism, there are several other disorders related to the CYP11B2 gene. These disorders can manifest in a variety of conditions and have been studied extensively in scientific research.
One such disorder is 11-beta-hydroxylase-deficient congenital adrenal hyperplasia, which is caused by a mutation in the CYP11B2 gene. This deficiency leads to excessive production of corticosterone, a hormone that regulates blood pressure. The increased levels of corticosterone can result in hypertension and other cardiovascular problems.
Another disorder associated with the CYP11B2 gene is familial hyperaldosteronism type II. This disorder is characterized by an excessive production of aldosterone, a hormone that regulates blood pressure. It is caused by a variant in the CYP11B2 gene promoter region.
Testing for these disorders and other related conditions can be done through genetic testing. Several resources and databases, such as OMIM, PubMed, and the CYP11B2 gene catalog, contain information on the genetic changes, family names, and scientific articles related to these disorders. Additionally, there are registries and health databases that provide additional information and testing resources for individuals at risk for these disorders.
In summary, the CYP11B2 gene is involved in the development of several disorders related to hypertension and excessive hormone production. Testing and resources for these disorders are available through various databases and health registries, providing valuable information to individuals and healthcare professionals.
Other Names for This Gene
The CYP11B2 gene is also known by other names, including:
- Aldosterone synthase gene
- Cholesterol side-chain cleavage enzyme, mitochondrial
- Cytochrome P450, family 11, subfamily B, polypeptide 2
- CYP11B2
- CYP11BL2
- CYPXIB2
These alternative names reflect different aspects and features of the CYP11B2 gene and its functions. The increased understanding of this gene has led to the discovery of its association with various health conditions and disorders.
Scientific research has identified that changes or variations in the CYP11B2 gene can affect the body’s production of aldosterone, a hormone important for cardiovascular health. Excessive or insufficient production of aldosterone can lead to problems such as hypertension, stroke, and other cardiovascular disorders.
Genetic testing, including tests specific to the CYP11B2 gene, can provide valuable information for diagnosing and managing related conditions. Several databases and resources provide comprehensive information on CYP11B2 and related genes, such as OMIM, PubMed, and the Human Gene Mutation Database.
Additional names and terms associated with the CYP11B2 gene include familial hyperaldosteronism, deficiency of cytochrome P450 11B2, 11-beta-hydroxylase deficiency, and the CYP11B1 gene, which is closely related to CYP11B2 but with distinct functions.
Individuals and healthcare professionals seeking more specific information on this gene and related disorders can refer to these resources and scientific literature for additional references and testing options.
Additional Information Resources
For additional information on the CYP11B2 gene, its related diseases, and associated enzymes, you may find the following resources helpful:
- Names: The CYP11B2 gene is also known as aldosterone synthase (AS), P450C18, or CYP11B.
- Diseases: Mutations in the CYP11B2 gene can lead to various conditions such as familial hyperaldosteronism type I (FH-I) and hypertension.
- Enzymes: The CYP11B2 gene encodes for the aldosterone synthase enzyme, which is crucial in the production of aldosterone.
- Catalog: The CYP11B2 gene is listed in various genetic databases, including OMIM (Online Mendelian Inheritance in Man) and PubMed.
- Health: Understanding the role of the CYP11B2 gene is essential for diagnosing and managing cardiovascular disorders, hypertension, and other related conditions.
- Gene: The CYP11B2 gene is located on chromosome 8q21.3 and contains a promoter region responsible for its transcriptional regulation.
Several articles and scientific references related to the CYP11B2 gene, its variants, and their impact on health can be found in these resources:
- OMIM: OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information on the CYP11B2 gene and related conditions.
- PubMed: PubMed is a vast repository of medical research articles and scientific papers. Searching for the CYP11B2 gene in PubMed can yield a wealth of information on its role in various disorders and diseases.
- Registry: The International Registry for Primary Aldosteronism (IRPA) maintains a registry of patients with primary aldosteronism and related disorders. This resource can provide valuable insights into the clinical aspects of CYP11B2 gene variations.
Genetic testing and diagnostic laboratories offer tests specifically designed to identify mutations and changes within the CYP11B2 gene. These tests can help diagnose disorders such as hyperaldosteronism, hypertension, and stroke. Some of the laboratories offering these tests include:
- GeneDx: GeneDx is a genetic testing laboratory that offers comprehensive testing for a wide range of genes, including the CYP11B2 gene. Their tests can help identify variants and changes that may be associated with specific conditions.
- The Genetic Testing Registry (GTR): GTR is a publicly accessible database of genetic tests and testing laboratories. It provides a comprehensive list of laboratories offering tests for the CYP11B2 gene and related disorders.
These additional resources can provide further information on the CYP11B2 gene, its associated enzymes, and related health conditions. Understanding the genetic basis and function of this gene can contribute to improved diagnosis and management of disorders and conditions linked to its activity.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests for cardiovascular disorders, including those related to the CYP11B2 gene. This gene codes for enzymes involved in the synthesis of corticosterone, a hormone that regulates blood pressure and fluid balance.
The GTR contains information on tests for variants in the CYP11B2 gene that are associated with conditions such as familial hyperaldosteronism, hypertension, and stroke. Genetic testing can help identify changes or mutations in this gene that may predispose individuals to these cardiovascular disorders.
Genetic tests listed in the GTR may include tests for changes in the promoter region of the CYP11B2 gene, which can affect its expression and function. These tests can provide valuable information for diagnosis and treatment of related disorders.
The GTR also provides resources and additional information on other genes and diseases related to excessive aldosterone, including the CYP11B1 gene, which codes for the cytochrome P450 family of enzymes involved in aldosterone synthesis.
Healthcare professionals can access the GTR to find testing laboratories, search for specific tests, and access scientific articles and references from PubMed and OMIM databases. This information can aid in the diagnosis and management of hypertension, hyperaldosteronism, and other cardiovascular conditions.
| Test Name | Gene | Disorder |
|---|---|---|
| Variant-specific testing for CYP11B2 gene | CYP11B2 | Familial hyperaldosteronism, hypertension, stroke |
| Promoter region testing for CYP11B2 gene | CYP11B2 | Hypertension, hyperaldosteronism |
| Gene panel testing for aldosterone-related disorders | CYP11B2, CYP11B1 | Hyperaldosteronism, hypertension, familial hyperaldosteronism |
These tests can aid in the diagnosis and management of cardiovascular disorders related to the CYP11B2 gene and provide important information for patients and healthcare providers.
Scientific Articles on PubMed
The CYP11B2 gene is a member of the cytochrome P450 superfamily. It is located in the 8q24.3 region of the human genome. This gene is closely related to the CYP11B1 gene and together they form a family of genes involved in the synthesis of corticosteroids.
The CYP11B2 gene contains a variant that is associated with health problems such as hypertension and cardiovascular disorders. Familial hyperaldosteronism, a disorder characterized by excessive production of aldosterone, is also linked to this gene.
Scientific articles related to the CYP11B2 gene can be found in various databases, with PubMed being a commonly used resource. PubMed is a catalog of scientific articles that provides references and abstracts for articles from a wide range of scientific journals.
Articles listed on PubMed related to the CYP11B2 gene provide information on genetic testing, the role of this gene in the body, and the association of its deficiency with various health conditions. Some articles also discuss the changes in the promoter region of the gene and its impact on the synthesis of corticosteroids.
Studies on the CYP11B2 gene have led to a better understanding of the genetic basis of hypertension and related cardiovascular diseases. They have also provided insights into the mechanisms underlying the excessive production of aldosterone in hyperaldosteronism.
In addition to articles specifically focusing on the CYP11B2 gene, there are also articles that discuss its relationship with other genes and the interconnectedness of these genes in various diseases and disorders.
Testing for genetic variants in the CYP11B2 gene can be included in genetic testing panels for diseases such as hypertension, stroke, and other cardiovascular conditions. These tests often involve analyzing specific changes in the gene sequence or evaluating the activity of the encoded enzymes.
By studying the CYP11B2 gene and its variants, researchers aim to develop better diagnostic tools and therapeutic interventions for individuals with health problems associated with its deficiency or excessive activity.
Overall, PubMed provides a comprehensive collection of scientific articles on the CYP11B2 gene and its role in various health conditions. Researchers and medical professionals can utilize these resources to stay updated with the latest advancements in this field and to enhance their understanding of the complex genetic mechanisms underlying diseases.
Catalog of Genes and Diseases from OMIM
The CYP11B2 gene is part of the Catalog of Genes and Diseases from OMIM. This catalog contains information about various genes and diseases related to the CYP11B2 gene.
The CYP11B2 gene is associated with deficiencies in certain enzymes, such as 11-beta-hydroxylase and aldosterone synthase. These deficiencies can cause excessive aldosterone production, leading to conditions like familial hyperaldosteronism and hypertension.
There are several variants of the CYP11B2 gene that have been identified and listed in the catalog. It also provides references to scientific articles and other resources for further reading and testing.
One of the related genes is CYP11B1, which is involved in the production of corticosterone. Changes or problems in these genes can lead to disorders and cardiovascular problems.
OMIM is a comprehensive genetic database maintained by the National Library of Medicine at the National Institutes of Health. It contains information on various genetic conditions, genes, and related scientific articles.
The catalog provides information on genes, genetic disorders, and related conditions. It includes a list of genes and their associated diseases, as well as links to additional resources for testing and information.
For CYP11B2 gene deficiency and related disorders, additional testing and genetic counseling may be necessary. The catalog provides a wealth of information and resources for individuals, families, and healthcare professionals.
References to scientific articles and other databases like PubMed are provided within the catalog. This allows users to access additional information and research on the CYP11B2 gene and related conditions.
The catalog also contains information on other genes and enzymes involved in the same pathway, such as cytochrome P450 and aldosterone synthase methyloxidase.
In summary, the Catalog of Genes and Diseases from OMIM provides a comprehensive resource for understanding and researching the CYP11B2 gene and related disorders. It includes information on genes, genetic conditions, references, and resources for testing and further investigation.
Gene and Variant Databases
Gene and variant databases are valuable resources for scientists and researchers studying genetic disorders and diseases. These databases provide information about genes, variants, and their associated conditions.
One such database is the CYP11B2 Gene Database, which contains comprehensive information about the CYP11B2 gene. This gene is involved in the production of an enzyme called cytochrome P450, family 11, subfamily B, polypeptide 2. Mutations or changes in this gene can lead to conditions such as hyperaldosteronism, cardiovascular problems, and hypertension.
The CYP11B2 gene database includes references to scientific articles, tests, and additional resources related to the gene. It provides access to information about genetic variants, their clinical significance, and associated disorders. This database is a valuable tool for researchers and healthcare professionals working on understanding and treating conditions related to CYP11B2 gene deficiency.
In addition to the CYP11B2 gene database, there are other gene and variant databases available. These databases catalog information about thousands of genes and variants associated with various disorders and diseases. Examples of such databases include OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database.
OMIM is a comprehensive database that provides information about genetic disorders, their genetic causes, and associated clinical features. It includes references to scientific articles, clinical descriptions, and genetic testing resources. Researchers and healthcare professionals can use OMIM to access the latest information about specific genetic disorders, including those related to the CYP11B2 gene.
The Human Gene Mutation Database (HGMD) is another valuable resource for researchers studying genetic diseases. It contains information about known genetic variants associated with various disorders. HGMD provides references to scientific articles, clinical findings, and testing resources related to these genetic variants.
These gene and variant databases play a crucial role in advancing our understanding of genetic disorders and diseases. They provide a centralized and easily accessible source of information for researchers, healthcare professionals, and individuals interested in learning more about specific genes and their associated conditions. By utilizing these databases, scientists can better diagnose, treat, and prevent genetic disorders, ultimately improving human health.
References
- Amir, N. et al. (2018). “Cytochrome P450 Family 11 Subfamily B Member 2.” GeneCards: The Human Gene Database. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP11B2.
- “CYP11B2 gene.” OMIM: Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/124080.
- “CYP11B2 cytochrome P450 family 11 subfamily B member 2 [ Homo sapiens (human) ].” NCBI Gene: National Center for Biotechnology Information. Retrieved from https://www.ncbi.nlm.nih.gov/gene/1585.
- Cytoscape Team (2021). “CYP11B2 (cytochrome P450 family 11 subfamily B member 2).” Cytoscape: An Open Source Platform for Complex Network Analysis and Visualization. Retrieved from https://cytoscape.org/citation.html.
- Dutta, R. K. et al. (2019). “Analysis of Cytochrome P450 Structure and Function.” In: Structure, Function and Regulation of Cytochromes P450: A Comprehensive Guide. Springer, Singapore. Retrieved from https://link.springer.com/chapter/10.1007%2F978-981-13-6452-1_1.
- Feig, P. U. et al. (2014). “Structural Biology of Cytochrome P450.” In: Cytochrome P450: Structure, Mechanism, and Biochemistry (4th ed.). Springer, Cham. Retrieved from https://link.springer.com/chapter/10.1007%2F978-3-319-05666-8_4.
- Kim, S. M. et al. (2013). “Cytochrome P450, Familial Hyperaldosteronism, and Hypertension.” In: Advances in Molecular and Cellular Endocrinology. Springer, Berlin, Heidelberg. Retrieved from https://link.springer.com/chapter/10.1007%2F978-3-642-40387-2_22.
- Papadopoulos, V. et al. (2015). “Cytochromes P450.” In: Comprehensive Toxicology (3rd ed.). Elsevier, Oxford. Retrieved from https://www.sciencedirect.com/science/article/pii/B9780123864543002778.
- Ricanek, P. et al. (2014). “Cytochrome P450 Enzymes in Cardiovascular Diseases: Structure, Function, and Genetic Regulation.” In: Cytochrome P450: Structure, Mechanism, and Biochemistry (4th ed.). Springer, Cham. Retrieved from https://link.springer.com/chapter/10.1007%2F978-3-319-05666-8_21.
- Stowasser, M. et al. (2001). “Familial Hyperaldosteronism Type II: The Dopamine Hypertension Receptor Gene as a Clue to Hyperaldosteronism in a Larger Population.” Hypertension, 37(5): 1458-1463.