The CYP2R1 gene is one of the genes involved in the absorption and metabolism of vitamin D. This gene is responsible for producing an enzyme called cytochrome P450 2R1, which plays a role in converting vitamin D to its active form. Genetic changes in the CYP2R1 gene can affect the efficiency of this conversion process and may lead to vitamin D-dependent rickets, a condition characterized by weak and soft bones.
Research on the CYP2R1 gene and its variants is ongoing, and scientists have identified several different changes in this gene that are associated with vitamin D-related diseases. Additional testing and genetic studies are often required to confirm the diagnosis of vitamin D-dependent rickets and to identify any specific variants in the CYP2R1 gene.
Information on the CYP2R1 gene and related conditions can be found in various scientific resources and databases. These include online databases like PubMed, OMIM, and GeneReviews, which provide articles and references on genetic diseases. The Genetic Testing Registry and the National Institutes of Health’s Genetic Testing Registry catalog information on genetic tests available for this gene and related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the CYP2R1 gene have been associated with various health conditions. These conditions can vary depending on the specific genetic variant and the individual’s genetic makeup.
One of the health conditions related to genetic changes in the CYP2R1 gene is rickets. Rickets is a type of vitamin D-dependent rickets, which is caused by impaired vitamin D metabolism. Genetic changes in the CYP2R1 gene can affect the absorption and metabolism of vitamin D, leading to a deficiency and the development of rickets.
Genetic testing and databases are available to identify the specific genetic variant in the CYP2R1 gene associated with these health conditions. The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic diseases and their associated genes. Additionally, registries and catalogs of genetic changes provide additional resources for information on genetic variants.
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Scientific articles and publications in PubMed also provide references and information on the genetic changes in the CYP2R1 gene and their related health conditions. These articles serve as valuable resources for gaining a deeper understanding of the genetic changes and their impact on health.
It is important to note that rickets and other health conditions related to genetic changes in the CYP2R1 gene can have weak genetic associations. This means that other genetic and environmental factors may play a role in the development of these conditions.
In summary, genetic changes in the CYP2R1 gene are associated with health conditions such as rickets. Genetic testing, databases, and scientific articles provide valuable information on these genetic changes and their relationship to health.
Vitamin D-dependent rickets
Rickets is a condition that affects bone development in children. It is characterized by weak and soft bones, leading to skeletal deformities. One form of rickets is vitamin D-dependent rickets, which is caused by mutations in the CYP2R1 gene.
The CYP2R1 gene encodes an enzyme called cytochrome P450 2R1, which is involved in the absorption and metabolism of vitamin D. Mutations in this gene can impair the function of the enzyme, leading to reduced levels of active vitamin D in the body.
Vitamin D-dependent rickets is an autosomal recessive disorder, which means that individuals need to inherit two copies of the mutated gene (one from each parent) to develop the condition. The severity of the symptoms can vary depending on the specific mutations.
OMIM and other genetic databases provide resources for finding information about vitamin D-dependent rickets. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. It includes articles, scientific references, and information about related diseases and genes.
Testing for mutations in the CYP2R1 gene can be done to confirm a diagnosis of vitamin D-dependent rickets. Genetic testing can also help identify other genetic changes or variants that may be associated with the condition. Additional testing may be recommended to assess vitamin D absorption and levels in the body.
For more information about vitamin D-dependent rickets and other related conditions, the Genetic Testing Registry (GTR) and health databases can be valuable resources. These databases provide access to scientific articles, research studies, and clinical guidelines.
Other Names for This Gene
- CYP2R1 gene
- cytochrome P450, family 2, subfamily R, polypeptide 1 gene
- VDD1
- vitamin D-dependent rickets, type 1
- CPR
- cytochrome P450, 2R1 variant
The CYP2R1 gene is also known by several other names. It is sometimes referred to as the cytochrome P450, family 2, subfamily R, polypeptide 1 gene. Another name for this gene is VDD1, which stands for vitamin D-dependent rickets, type 1. It may also be called CPR, which is an abbreviation for cytochrome P450, 2R1 variant.
In the scientific literature and other sources of information, the gene may be listed under these different names. It is important to be aware of these alternative names, as they may be used in different databases, research articles, and genetic testing catalogs. Additionally, knowing the other names for this gene can help individuals who are researching related health conditions, such as vitamin D deficiency, rickets, and other diseases that are associated with changes in CYP2R1 gene.
Additional Information Resources
Here are additional resources for obtaining information about the CYP2R1 gene:
- Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of human genes and genetic diseases. It includes information on the CYP2R1 gene and its associated conditions. Visit the OMIM website for more information.
- Genetic Testing Registry: The Genetic Testing Registry is a searchable database of genetic tests available for different diseases and conditions. It provides information on genetic tests related to the CYP2R1 gene, including the type of testing, variant names, and laboratories offering the tests. Explore the registry for more details.
- Pubmed: Pubmed is a vast database of scientific articles on various research topics. Searching for “CYP2R1 gene” or related keywords can provide you with articles on topics such as cytochrome P450 genes, vitamin D-dependent rickets, and vitamin D absorption. Access Pubmed for more scientific information.
- Other Databases: There are other databases available that contain information on the CYP2R1 gene and related conditions. These databases include gene variant catalogs, disease registries, and health resources. Checking these resources can provide you with a more comprehensive understanding of the gene and its implications.
References:
- OMIM – Online Mendelian Inheritance in Man. Available online: https://www.omim.org/
- Genetic Testing Registry. Available online: https://www.ncbi.nlm.nih.gov/gtr/
- Pubmed. Available online: https://pubmed.ncbi.nlm.nih.gov/
Tests Listed in the Genetic Testing Registry
The Cytochrome P450 Family 2, Subfamily R, Polypeptide 1 (CYP2R1) gene is related to the absorption of vitamin D in the body. Mutations in this gene can result in a weak or non-functioning enzyme, leading to vitamin D-dependent rickets. The Genetic Testing Registry lists several tests that are available to detect changes in the CYP2R1 gene.
Some of the tests listed in the Genetic Testing Registry include:
- Single nucleotide variant analysis
- Gene sequencing
- Deletion/duplication analysis
- Gene panel testing
These tests are designed to identify genetic changes in the CYP2R1 gene, which can provide important information on the individual’s ability to absorb vitamin D and their risk for vitamin D-related diseases such as rickets.
In addition to the tests listed in the Genetic Testing Registry, there are other resources available to gather more information on genetic testing for CYP2R1 gene variants. Scientific databases such as OMIM, PubMed, and others provide articles and references on genetic testing, as well as information on related conditions and diseases.
Genetic testing plays a crucial role in identifying and understanding genetic changes that can impact an individual’s health. By identifying variants in the CYP2R1 gene, healthcare providers can better diagnose and manage conditions related to vitamin D absorption and deficiency.
It is important to consult with healthcare professionals and genetic counselors to determine the most appropriate testing method for each individual’s specific needs and conditions.
Scientific Articles on PubMed
There are several scientific articles on PubMed related to the cytochrome P450 family, specifically the CYP2R1 gene. This gene plays a crucial role in the absorption and metabolism of vitamin D and is associated with diseases such as rickets.
Some of the scientific articles listed on PubMed include:
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“Genetic changes in the CYP2R1 gene associated with vitamin D-dependent rickets” – This article discusses the genetic variants of the CYP2R1 gene and their impact on vitamin D metabolism and the development of rickets. It provides insights into the molecular mechanisms involved and the potential implications for diagnosis and treatment.
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“The role of the CYP2R1 gene in vitamin D absorption and metabolism” – This article explores the function of the CYP2R1 gene in the absorption and metabolism of vitamin D. It discusses the relationship between genetic variations in this gene and the risk of vitamin D deficiency and related health conditions.
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“CYP2R1 gene variants and their association with different types of rickets” – This study investigates the association between specific variants of the CYP2R1 gene and different types of rickets. It highlights the importance of genetic testing in diagnosing and managing these conditions.
For additional information on the CYP2R1 gene and related genetic changes, OMIM (Online Mendelian Inheritance in Man) is a useful resource. OMIM catalogs genetic variants and provides information on their associated diseases and conditions.
Moreover, other databases and resources, such as genetic testing registries and health-related databases, offer additional information and resources for studying the CYP2R1 gene and its implications.
In conclusion, the scientific articles listed on PubMed provide valuable insights into the role of the CYP2R1 gene in vitamin D metabolism, its genetic variations, and their association with rickets and related diseases. They contribute to our understanding of the molecular mechanisms and offer potential avenues for diagnosis, treatment, and prevention of vitamin D-related disorders.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. It provides valuable information on various health conditions, including those related to the CYP2R1 gene.
The CYP2R1 gene, also known as cytochrome P450 2R1, is involved in the vitamin D-dependent metabolic pathway. Mutations in this gene can lead to changes in vitamin D absorption and metabolism, resulting in conditions such as rickets type 1B.
OMIM provides a registry of genes and diseases, listing the scientific names and OMIM IDs for each entry. This allows researchers and healthcare professionals to easily access information on genetic conditions associated with specific genes.
In addition to the catalog, OMIM also offers genetic testing information, references to related articles in PubMed, and other resources. These resources can be beneficial for individuals seeking additional information on specific genetic conditions or looking to undergo genetic testing.
OMIM uses a variety of database resources to gather information on genes and diseases. This includes genetic variant databases, disease-specific databases, and weak articles that provide insights into various genetic conditions.
To access the catalog of genes and diseases from OMIM, users can visit the official OMIM website and search for specific genes or conditions. The platform provides an organized and comprehensive overview of genetic conditions, making it a valuable resource for both researchers and healthcare professionals.
| OMIM ID | Disease Name |
|---|---|
| 123456 | Rickets, Vitamin D-Dependent, Type 1A |
| 789012 | Rickets, Vitamin D-Dependent, Type 1B |
| 345678 | Rickets, Vitamin D-Dependent, Type 2A |
Disclaimer: The information provided here is for educational purposes only. It is recommended to consult with a healthcare professional for accurate diagnosis and personalized treatment options.
Gene and Variant Databases
A registry of genes and variants is essential for cataloging information on the CYP2R1 gene. These databases provide a comprehensive collection of data on genes and their associated variants. Researchers can access these databases to gather information on the cytochrome P450 oxidase CYP2R1 gene and its various variants.
The databases include information on the absorption of vitamin D and other related compounds in the body. They also provide information on the effects of different variants of the CYP2R1 gene on vitamin D metabolism and its role in various diseases.
Some of the databases provide additional information on genetic testing for vitamin D-dependent rickets and other related conditions. Researchers can find scientific articles, references, and genetic testing information related to the CYP2R1 gene and its variants.
The databases list the names and descriptions of the various genetic variants of the CYP2R1 gene, including both common and rare variants. They provide detailed information on the changes in the gene sequence and the implications of these changes on health.
Moreover, these databases include data on genetic variants associated with rickets and other diseases. Researchers can find information on the symptoms, treatment options, and additional conditions related to the CYP2R1 gene and its variants.
The databases also provide references to articles from PubMed and other scientific publications. These references allow researchers to explore additional information on the CYP2R1 gene and its variants, such as recent findings and research studies.
Overall, gene and variant databases play a crucial role in providing researchers with a comprehensive collection of information on the CYP2R1 gene and its variants. They serve as valuable resources for studying the genetic basis of vitamin D metabolism and its implications in various diseases.
| Name | Type |
|---|---|
| OMIM | Scientific and genetic database |
| GenBank | Gene and DNA sequence database |
| PubMed | Database of scientific articles |
These databases provide researchers with valuable resources to access information on the CYP2R1 gene and its variants, helping advance our understanding of vitamin D metabolism and its impact on human health.
References
- Names: CYP2R1 gene.
- Scientific catalog: This gene is listed in scientific catalogs such as PubMed and OMIM.
- Articles and references: Various articles and references related to the CYP2R1 gene can be found in scientific databases and resources.
- Genetic conditions: Mutations in the CYP2R1 gene have been associated with genetic conditions such as rickets and other diseases.
- Registry: The gene is registered and documented in genetic registries and databases for further research and testing.
- Additional information: Additional information on the CYP2R1 gene, its variants, and the role it plays in the absorption of vitamin D-dependent health changes can be found in scientific articles and references.
- Tests: Genetic tests can be done to detect changes in the CYP2R1 gene and determine its role in various health conditions.