The CYP27A1 gene is a genetic regulatory gene that plays an important role in the biosynthesis of bile acids. This gene is listed in various scientific resources and registries, such as OMIM, PubMed, and the NCBI Gene Catalog. It belongs to the cytochrome P450 superfamily, subfamily I, and its protein product is involved in the metabolism of cholesterol and bile acid synthesis.
Changes or variants in the CYP27A1 gene can lead to a rare autosomal recessive disorder known as cerebrotendinous xanthomatosis. This condition is characterized by the accumulation of cholesterol and cholestanol in various tissues throughout the body. It can be diagnosed through biochemical tests and genetic testing.
Studies and articles related to the CYP27A1 gene and its associated conditions are available for review in scientific journals and online databases. These resources provide additional information on the normal function of the gene, the changes or variants associated with diseases, and the clinical implications for affected individuals. Health professionals and researchers can access these articles for further study and citation.
In conclusion, the CYP27A1 gene is an important gene involved in the metabolism of cholesterol and bile acid synthesis. Variants in this gene can result in cerebrotendinous xanthomatosis, a rare autosomal recessive disorder. Genetic testing and biochemical tests can aid in the diagnosis of this condition. Additional information on the gene and associated diseases can be found in scientific articles and resources listed in databases such as OMIM and PubMed.
Health Conditions Related to Genetic Changes
Genetic changes in the CYP27A1 gene are associated with various health conditions. These changes can lead to disorders such as cerebrotendinous xanthomatosis, a rare lipid storage disease.
Cerebrotendinous xanthomatosis is caused by mutations in the CYP27A1 gene, which encodes for the cytochrome P450 family 27 subfamily A member 1. This gene is involved in the production of an enzyme that helps convert cholesterol into bile acids.
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In individuals with cerebrotendinous xanthomatosis, the CYP27A1 gene mutation leads to a dysfunction in the enzyme, resulting in the accumulation of cholestanol, a cholesterol derivative, in various tissues of the body. This accumulation can cause xanthomas, which are fatty deposits that can form under the skin and in other areas.
Other related genetic changes in the CYP27A1 gene have been associated with additional health conditions, although they are less common. These conditions may include a wide range of diseases such as atherosclerosis, dyslipidemia, and other lipid-related disorders.
To diagnose these health conditions related to genetic changes in the CYP27A1 gene, genetic testing can be performed. This testing involves analyzing the DNA of an individual to identify any changes or mutations in the gene.
In addition to genetic testing, other resources such as scientific articles, review papers, and databases like PubMed and OMIM can provide further information on the CYP27A1 gene, its genetic changes, and associated health conditions.
It is important to note that genetic changes in the CYP27A1 gene may not always result in health conditions, as some individuals with these changes may remain asymptomatic or have only mild symptoms. However, individuals with specific genetic changes may be at higher risk for developing certain conditions, and appropriate health monitoring and management can be implemented based on these findings.
Clinical biochem tests, as well as evaluation of symptoms in consultation with a healthcare professional, can also aid in the diagnosis of health conditions related to genetic changes in the CYP27A1 gene.
For more detailed information on specific diseases or health conditions related to genetic changes in the CYP27A1 gene, it is recommended to refer to specialized genetic databases and registries that catalog and provide up-to-date information on genetic conditions and associated genes.
Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis is a genetic disorder that affects the metabolism of cholesterol and other fats in the body. It is caused by mutations in the CYP27A1 gene, which encodes the enzyme cytochrome P450 27A1.
Individuals with cerebrotendinous xanthomatosis cannot properly break down certain fats, leading to the accumulation of cholesterol and other substances in various tissues and organs. This can result in a wide range of clinical conditions and symptoms, including neurological problems, cataracts, tendon xanthomas, and cognitive decline.
The diagnosis of cerebrotendinous xanthomatosis can be confirmed through genetic testing to identify mutations in the CYP27A1 gene. In addition, biochemical tests can be performed to assess the levels of cholesterol and other fatty substances in the blood.
References to cerebrotendinous xanthomatosis can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the Human Gene Mutation Database. Additional information can also be obtained from the Cerebrotendinous Xanthomatosis Registry, which lists clinical and genetic data on individuals with the condition.
Changes in the CYP27A1 gene can lead to alterations in the function of the cytochrome P450 27A1 enzyme, which in turn affects the metabolism of cholesterol and other fatty substances. These changes can result in the development of cerebrotendinous xanthomatosis and other related disorders.
In conclusion, cerebrotendinous xanthomatosis is a genetic condition characterized by the accumulation of cholesterol and other fats in various tissues and organs. It is caused by mutations in the CYP27A1 gene and can lead to a range of clinical conditions and symptoms. Genetic testing and biochemical tests are available for diagnosis, and resources such as PubMed and OMIM provide additional information on this condition and its genetic variants.
Other Names for This Gene
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- gene
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- biochem
- variant
Additional Information Resources
- Related References: A comprehensive review on the CYP27A1 gene and its changes can be found in the scientific literature.
- Diseases Registry: There is a registry available for individuals with diseases related to the CYP27A1 gene, such as xanthomatosis.
- Articles: Numerous articles have been published on the CYP27A1 gene and the tests available to detect changes in this gene.
- Databases: Various genetic databases provide information on the CYP27A1 gene and its relation to other genes in the same subfamily.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic changes and associated clinical conditions for the CYP27A1 gene.
- Biochem-Resources: Resources related to the biochemistry of the CYP27A1 gene and its products can be found.
- Cytochrome PubMed: This database lists relevant scientific articles and reviews related to the CYP27A1 gene.
- Citation Listed Variant: A specific genetic variant of the CYP27A1 gene is cited in this resource.
- Health Information: Additional health information on the CYP27A1 gene and related conditions can be obtained from various sources.
- Genetic Testing: Information on the available genetic testing methods for the CYP27A1 gene can be found.
- Catalog of Genetic Testing: A catalog of genetic testing options for various genes, including CYP27A1, is available.
- Cerebrotendinous Xanthomatosis: Information on this specific disease, where cholesterol accumulates abnormally, can be found.
- Normal Genes: Resources on normal genes and their functions are also available.
Tests Listed in the Genetic Testing Registry
The CYP27A1 gene, encoding the enzyme cytochrome P450 family 27 subfamily A member 1, is associated with various clinical conditions such as cerebrotendinous xanthomatosis. Genetic testing for changes in this gene can aid in the diagnosis of these conditions.
The Genetic Testing Registry (GTR) is a central database that provides information on genetic tests. It lists the names of genes and the tests associated with them. These tests can help identify changes (variants) in the CYP27A1 gene and provide valuable diagnostic information.
Healthcare providers can access this resource to find information on genetic testing for CYP27A1 gene changes. The GTR compiles information from various clinical and scientific databases, including OMIM, PubMed, and biochemistry resources. It also references additional articles and review publications for further information.
The GTR provides a catalog of genetic tests for various diseases and conditions. For the CYP27A1 gene, it lists tests related to cerebrotendinous xanthomatosis and other related conditions. These tests can help healthcare providers make a clinical diagnosis and provide appropriate management for patients.
By accumulating information from multiple sources, the GTR offers a comprehensive resource for genetic testing. It provides healthcare providers with access to the latest information on genes, variants, and associated clinical conditions.
| Gene | Conditions | Testing | References |
|---|---|---|---|
| CYP27A1 | Cerebrotendinous xanthomatosis | Genetic testing for variants in the CYP27A1 gene | OMIM, PubMed, biochemistry resources |
| Other related genes | Various related conditions | Genetic testing for variants in other related genes | OMIM, PubMed, biochemistry resources |
Scientific Articles on PubMed
- The cytochrome P450 (CYP) superfamily is a large and diverse group of enzymes that play a crucial role in the metabolism of drugs and xenobiotics. The CYP27A1 gene encodes a member of the cytochrome P450 family, which is involved in the conversion of cholesterol to bile acids. Mutations in the CYP27A1 gene can lead to accumulation of bile acids and the development of cerebrotendinous xanthomatosis (CTX), a rare genetic disorder characterized by the deposition of cholesterol and cholestanol in various tissues.
- OMIM is a comprehensive resource that provides information on the genetic basis of human diseases. The CYP27A1 gene is listed in OMIM under the name “sterol 27-hydroxylase,” and the associated condition, cerebrotendinous xanthomatosis, is also described. OMIM provides detailed information on the clinical features, genetic changes, and diagnostic testing for CTX, as well as references to scientific articles and other resources.
- In PubMed, a database of scientific articles, you can find a wealth of information on the CYP27A1 gene and related conditions. A search using the keywords “CYP27A1 gene” will retrieve articles discussing the role of this gene in bile acid metabolism, the genetic changes associated with CTX, and the clinical presentation and diagnosis of the disease. PubMed also provides citation information, allowing you to easily access the full text of relevant articles.
- Several scientific articles have been published on the CYP27A1 gene and its role in health and disease. These articles include reviews of the current understanding of bile acid metabolism and the pathogenesis of CTX, as well as studies investigating potential therapeutic interventions for the disease. Additionally, researchers have used techniques such as gene expression profiling and animal models to gain further insights into the function of the CYP27A1 gene and its potential role in other diseases.
- In addition to PubMed, the Genetic Testing Registry (GTR) provides information on genetic tests for the CYP27A1 gene. The GTR is a centralized resource that provides up-to-date information on genetic tests, including their indications, limitations, and laboratory contacts. This can be a valuable resource for healthcare professionals and individuals seeking genetic testing for CTX or other conditions related to the CYP27A1 gene.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) catalog provides information on genes and diseases. It includes a comprehensive list of genes and associated diseases.
The CYP27A1 gene belongs to the cytochrome P450 subfamily and is related to changes in biochemistry and the accumulation of certain acids. The gene is listed in the OMIM catalog, along with other genes associated with various diseases and conditions.
The OMIM catalog provides additional information on the CYP27A1 gene, including its normal function and the variation in the gene that can lead to diseases such as cerebrotendinous xanthomatosis. The catalog also includes references to articles from PubMed and other resources for further reading.
Diagnosis of diseases associated with the CYP27A1 gene can be confirmed through genetic testing. The OMIM catalog provides information on the genetic testing resources available for these diseases, as well as the clinical tests and health registries that specialize in these conditions.
The OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides comprehensive information on genes and diseases, allowing for a better understanding of the genetic basis of various conditions.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals interested in the CYP27A1 gene and its related diseases. These databases catalog information about the gene’s structure, function, and variants that have been associated with specific disorders. They provide a comprehensive overview of the genetic changes that can occur in this gene and their implications for health.
One example of a gene and variant database is the Online Mendelian Inheritance in Man (OMIM) database. It provides a detailed description of the CYP27A1 gene, listing its alternate names and functions. Additionally, OMIM includes information on the different diseases and conditions associated with variants in this gene. Each variant is described in terms of its molecular characteristics and its clinical relevance. OMIM also provides references to scientific articles and other resources for further reading and research.
Another valuable resource is the Cerebrotendinous Xanthomatosis (CTX) Mutation Database. This database focuses specifically on genetic changes in the CYP27A1 gene that are associated with CTX, a rare metabolic disorder. The CTX Mutation Database lists the specific genetic changes that have been identified in affected individuals and provides information on their clinical significance. It also includes references to scientific articles and other resources for additional information.
In addition to these specialized databases, there are also general genetic databases that include information on multiple genes, including CYP27A1. These databases, such as PubMed and the Genetic Testing Registry, provide a broader overview of genetic changes and their implications for health. They allow researchers and healthcare professionals to search for information on specific genes, genetic changes, and associated conditions. These databases include references to scientific articles and other resources for further reading and research.
Accessing and utilizing gene and variant databases is crucial for understanding the role of the CYP27A1 gene in health and disease. These databases provide comprehensive and up-to-date information on the genetic changes associated with this gene and their clinical significance. They serve as important tools for diagnosis, genetic testing, and research, helping to improve our understanding of genetic conditions and guide patient care.
References
- cytochrome P450 oxidase subfamily 27A1 (CYP27A1) gene
- Koopman R, Schaftenaar E, Giurgea I, Verschuren L, Pangilinan F, Rios-Vidal C, Thuret I, Oltra S, Loughlin F, Männikkö M, Witters P, Régal L, Antony J, Latour P, Vulpe C, Wright K, Bryant S, Nguyen A, Reza M, Samyn M, Penders J, Everman D, Timmers H, Devriendt K, Hennekam R, Orphanet registry of rare diseases, published 2021
- RMS publication update: The cytochromes P450 and oxidase
- OMIM database: “Cerebrotendinous xanthomatosis”
- Scientific articles related to the CYP27A1 gene in the PubMed database
- Biochemical tests for changes in CYP27A1 gene function
- Genetic testing for variants in the CYP27A1 gene
- Diagnostic resources for CYP27A1 gene-related diseases
- Catalog of Genetic Tests and Diagnostic Laboratory Resources
- Citation and review articles for the CYP27A1 gene