The SLC22A12 gene is associated with a condition known as hypouricemia, which is characterized by low levels of urate in the body. This gene encodes for a carrier protein that plays a crucial role in the reabsorption of urate in the renal tubules. Changes or variants in this gene can result in urate being excreted into the urine, leading to hypouricemia and related disorders.
Various resources on genetics and health provide information on the SLC22A12 gene and its associated proteins. These resources include scientific articles, databases, and registries such as PubMed, OMIM, and gene testing catalogs. They list the different variants of the SLC22A12 gene and provide references for further research and testing.
Testing for changes in the SLC22A12 gene can be helpful in diagnosing hypouricemia and related conditions. Additional renal function tests may be conducted to determine the extent of the genetic changes and resulting diseases. Understanding the role of the SLC22A12 gene and its variants can provide valuable insights into the mechanisms of urate reabsorption and the development of related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the SLC22A12 gene can lead to various health conditions related to urate metabolism and disorders in the renal tubules. These conditions are typically characterized by abnormal levels of urate in the body, which can result in the development of certain diseases.
The SLC22A12 gene encodes a protein called a solute carrier family 22 member 12 (URAT1). This protein is responsible for the reabsorption of urate in the renal tubules, which helps maintain urate homeostasis in the body.
Genetic changes in the SLC22A12 gene can lead to the production of a variant URAT1 protein that is either non-functional or has reduced function. This can result in abnormal urate reabsorption in the kidneys and ultimately lead to the development of health conditions.
One example of a health condition related to genetic changes in the SLC22A12 gene is primary hypouricemia. This condition is characterized by abnormally low levels of urate in the blood and urine. Individuals with primary hypouricemia may experience joint-related symptoms such as joint pain, swelling, and inflammation.
To identify genetic changes in the SLC22A12 gene, various testing methods can be utilized. These include genetic testing, which involves analyzing an individual’s DNA to detect specific gene variants or changes. Additionally, a registry of genetic variants and associated health conditions can provide valuable information on the impact of specific gene changes.
Several resources, databases, and scientific articles should be consulted to gather information on health conditions related to genetic changes in the SLC22A12 gene. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genes and genetic disorders, which can provide references to scientific articles and additional information on specific health conditions.
Further research and testing are necessary to fully understand the range of health conditions related to genetic changes in the SLC22A12 gene. By studying genetic variants and their resulting effects on proteins and the body, scientists can gain insight into the mechanisms underlying these conditions and potentially develop targeted therapies.
Renal hypouricemia
Renal hypouricemia is a condition characterized by low levels of urate in the urine due to impaired reabsorption of solute in the renal tubules. This condition is caused by variants in the SLC22A12 gene, which encodes a protein involved in the transport of urate in the kidneys.
Testing for renal hypouricemia can be done through genetic testing, which looks for changes or variants in the SLC22A12 gene. Additional tests may also be conducted to measure the levels of urate in the urine and blood.
Renal hypouricemia is associated with various health conditions and disorders, including joint problems and other related diseases. The Online Mendelian Inheritance in Man (OMIM) database provides further information on the genetic basis of renal hypouricemia and related conditions.
Scientific articles and references on renal hypouricemia can be found in PubMed, a repository of biomedical literature. It is a valuable resource for gathering information on the diagnosis, treatment, and management of this condition.
The Catalog of Genes and Genetic Disorders is also a useful database for exploring the role of genes in renal hypouricemia and related conditions. It provides a comprehensive list of genes and their associated disorders.
For individuals considering genetic testing, it is important to consult with healthcare professionals and genetic counselors who can provide additional information and resources. Genetic testing can help identify variants in the SLC22A12 gene and provide useful insights into the diagnosis and management of renal hypouricemia.
Carrier testing may also be available for individuals who want to determine if they carry a variant in the SLC22A12 gene. This can be useful for family planning and understanding the risk of passing on the condition to future generations.
Overall, understanding the genetic basis of renal hypouricemia and related conditions can contribute to improved diagnosis, treatment, and management strategies.
Other disorders
In addition to renal hypouricemia, the SLC22A12 gene has been associated with several other disorders related to the reabsorption of solute from urine.
One such disorder is hyperuricemia, where the body retains high levels of urate in the blood. This can result in conditions such as gout, where urate crystals form in the joints and cause inflammation and pain.
There are also genetic variants of the SLC22A12 gene that can lead to hypouricemia, where the body excretes excessive amounts of urate in the urine. This can increase the risk of developing kidney stones.
Testing for genetic variants in the SLC22A12 gene can be done through various genetic testing resources and databases. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genetic disorders and related genes, including SLC22A12. Other databases and registries also provide information on genetic variants and their association with various diseases and conditions.
If you suspect a disorder related to the SLC22A12 gene or have a family history of such disorders, it is recommended to consult with a healthcare professional and consider genetic testing.
Additional scientific articles and references can provide more in-depth information on the role of SLC22A12 gene variants and related proteins in the development and progression of these disorders.
| Name | Description |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | A comprehensive catalog of genetic disorders and related genes. |
| Genetic Testing Registry (GTR) | A database of genetic tests and testing laboratories. |
| GeneReviews | A collection of in-depth, expert-authored summaries on genetic disorders. |
Consulting these resources and genetic testing can provide valuable insights into the diagnosis and management of disorders associated with the SLC22A12 gene.
Other Names for This Gene
The SLC22A12 gene is also known by several other names:
- URAT1
- RST
- UT1
- P4
- hURAT1
These other names reflect the different aspects and functions of the SLC22A12 gene.
Additional Information Resources
For additional information on the SLC22A12 gene and related conditions, the following resources are available:
- Testing: Various laboratories offer testing services for genetic disorders related to the SLC22A12 gene. Contact your healthcare provider for a list of available testing options.
- Genetic databases: Databases such as PubMed and the Human Gene Mutation Database (HGMD) contain scientific articles and references related to the SLC22A12 gene and its variants.
- Genetic registries: Registries, such as the UroGenesys Genomic Urinary Disorders Registry, provide information and resources for patients and healthcare providers interested in learning more about genetic disorders affecting the renal tubules.
- Health organizations: Organizations like the National Institutes of Health (NIH) and the Genetic and Rare Diseases Information Center (GARD) can provide valuable information and resources on genetic disorders, including those associated with the SLC22A12 gene.
- Articles and publications: Scientific articles and publications related to the SLC22A12 gene and associated disorders can be found in various medical journals and databases.
- Online resources: Websites like GeneCards and OMIM provide detailed information on genes, genetic disorders, and related conditions. These resources can be helpful in understanding how changes in the SLC22A12 gene can result in hypouricemia and other disorders.
It is important to consult with healthcare professionals and genetic specialists for accurate and up-to-date information on testing, genetic variants, and treatment options related to the SLC22A12 gene and its associated conditions.
Tests Listed in the Genetic Testing Registry
Genetic testing can provide valuable information about the SLC22A12 gene and its variants. The Genetic Testing Registry (GTR) catalog lists various tests related to this gene.
The SLC22A12 gene is responsible for encoding a protein known as urate transporter 1 (URAT1). This protein plays a crucial role in the reabsorption of urate from the body’s urine into the renal tubules. Variants in the SLC22A12 gene can lead to conditions such as renal hypouricemia, where the body is unable to reabsorb urate properly, resulting in low levels of uric acid in the blood.
The GTR provides a comprehensive catalog of tests that focus on genes and variants associated with various health conditions, including those related to the SLC22A12 gene. These tests can help identify carrier status, diagnose related diseases, and provide additional information for managing and preventing disorders linked to SLC22A12 gene changes.
The test names listed in the GTR include scientific and non-scientific names, making it easier to search for specific tests. The catalog also provides links to additional resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed articles for further references and research.
By exploring the GTR, individuals and healthcare professionals can access a wealth of information on genetic tests related to the SLC22A12 gene. This can contribute to a better understanding of related disorders and aid in developing appropriate treatment plans.
The comprehensive nature of the GTR ensures that anyone seeking information on genetic testing for the SLC22A12 gene can access relevant and up-to-date resources.
| Test Name | Description |
|---|---|
| SLC22A12 gene variant analysis | This test analyzes the SLC22A12 gene for any variants that may be associated with renal hypouricemia or related disorders. |
| URAT1 protein expression test | This test measures the levels of URAT1 protein in the body, providing insights into its function and potential impact on urate reabsorption. |
| Carrier screening for SLC22A12 gene variants | This test is specifically designed to determine if an individual is a carrier for SLC22A12 gene variants, which can be important for family planning and genetic counseling. |
These examples showcase the range of tests available and highlight the important role of genetic testing in the understanding and management of conditions related to the SLC22A12 gene.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the SLC22A12 gene. This gene is responsible for encoding proteins that are involved in the reabsorption of urate in the renal tubules. Genetic changes in the SLC22A12 gene can result in various conditions, including hypouricemia and disorders related to urate metabolism.
PubMed provides a searchable catalog of scientific articles and references from various journals. These articles provide valuable information on the SLC22A12 gene and its variants, as well as their implications for health and the development of related disorders.
Registry and Testing Resources
- OMIM – Online Mendelian Inheritance in Man: A comprehensive database of genes and genetic disorders. OMIM provides additional information on the SLC22A12 gene and its variants.
- GeneTests: A medical genetics information resource that offers testing information on genes, including SLC22A12, and related conditions.
Scientific Articles on PubMed
PubMed lists numerous scientific articles on the SLC22A12 gene. These articles explore various aspects of the gene’s function and the resulting genetic changes in conditions such as hypouricemia. Many of these articles provide valuable insights into the mechanisms and implications of these genetic changes.
Articles on Urate Reabsorption and SLC22A12 Gene Variants
- Molecular mechanisms of urate transport: Implications for physiology and disease.
- Genetic variants in SLC22A12 gene are associated with gout in a Chinese male population.
- SLC22A11 and SLC22A12 gene polymorphisms associated with gout susceptibility and response to urate-lowering therapy.
- SLC22A12 gene polymorphism (rs475688) is associated with serum uric acid levels and gout risk in a Brazilian population.
Articles on Carrier Testing and Health Implications
- Carrier testing for genetic conditions: Current practice and expanding technologies.
- The impact of carrier testing on carrier couples for reproductive disorders: A systematic review.
- Genome-wide sequencing for carrier testing: A qualitative study of patient attitudes and experiences.
These articles and resources provide a wealth of scientific information on the SLC22A12 gene and related disorders. Researchers and healthcare professionals can use this information to better understand the role of the gene in health and disease and to develop improved diagnostic and treatment strategies.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides information on the relationship between genetic changes and resulting diseases. One of the genes listed in OMIM is SLC22A12, which is responsible for the reabsorption of urate in the renal tubules.
OMIM serves as a registry for various genetic conditions and provides detailed information on genes, proteins, and related diseases. It consolidates information from other databases, such as PubMed, and integrates scientific articles, references, and resources on genetic disorders.
For the SLC22A12 gene, OMIM provides information on various variants and changes in the gene. These variants can result in conditions such as hypouricemia, where the body is unable to properly reabsorb urate from the urine. This can lead to elevated levels of urate in the blood and can cause joint problems.
OMIM also provides information on carrier testing for genes associated with genetic disorders. This testing can help identify individuals who carry variants in specific genes, even if they do not exhibit symptoms of the associated disorders themselves.
OMIM is a valuable resource for health professionals, researchers, and individuals interested in genetic conditions. It provides a comprehensive catalog with information on genes, diseases, and the relationship between the two. By consolidating information from various sources, OMIM offers a centralized platform for accessing genetic information and understanding the underlying causes of diseases.
| Gene Name | Associated Diseases |
|---|---|
| SLC22A12 | Hypouricemia |
References:
- OMIM database: https://omim.org
- PubMed: https://pubmed.ncbi.nlm.nih.gov
Gene and Variant Databases
Gene and variant databases provide information on genes and genetic variants associated with different health conditions and disorders. These databases are essential resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases and related conditions.
Gene databases list genes and their associated information, including names, functions, and changes or variants that can occur within these genes. They provide comprehensive catalogs of genes and their related proteins, allowing researchers to study how changes in these genes can affect the body’s solute transport and other physiological processes.
Variant databases specifically focus on the different variants or changes that can occur within genes. They provide detailed information on the specific genetic changes, such as mutations or deletions, associated with various health conditions and disorders. These databases include information on inherited genetic disorders, such as hypouricemia, which is caused by variants in the SLC22A12 gene.
In gene and variant databases, information is often organized in a structured manner. Databases may include links to additional resources, scientific articles, and references from credible sources like OMIM (Online Mendelian Inheritance in Man) and PubMed.
One important aspect of these databases is the inclusion of variant and gene carrier registries. These registries collect and maintain information on individuals carrying specific variants or genes associated with certain diseases. This information helps in genetic testing and counseling, as it provides a valuable resource for understanding the inheritance patterns and risks for individuals and families.
Additionally, many databases provide information on testing methods and available tests for detecting and diagnosing genetic disorders associated with specific genes or variants. This helps in identifying individuals at risk for developing certain diseases and allows for early interventions and preventive measures.
The information in gene and variant databases is constantly updated and revised as new research findings emerge. These databases serve as critical tools for researchers, healthcare professionals, and individuals seeking information on genetic conditions and diseases. They promote the advancement of genetic knowledge and its application in improving human health.
References
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Articles:
- Gene testing for SLC22A12 gene
- Articles on health conditions related to this gene
- Hypouricemia and its impact on the body
- The role of SLC22A12 gene in renal tubules
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Registry and databases:
- Registry for disorders associated with SLC22A12 gene
- Databases for genetic diseases
- Scientific changes and updates on the gene
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Genetic tests and resources:
- Information on SLC22A12 gene and related conditions
- Names and references of variant genes
- Tests to detect changes in the gene
- Resources for additional information on SLC22A12 gene
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Urate and renal tubules:
- Effects of SLC22A12 gene variants on urate reabsorption
- Related genes involved in renal tubules
- OMIM catalog of genetic variants in SLC22A12 gene
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Carrier testing:
- Testing for carrier status of SLC22A12 gene
- Impact of gene variants on urate levels
- Genetic counseling for individuals with SLC22A12 gene variants