The SLC6A19 gene, also known as b0AT1, is a sodium-dependent transporter that transports neutral amino acids, such as tryptophan and histidine, from the intestines and kidneys into the blood. It is encoded by the SLC6A19 gene.
Changes in this gene have been associated with Hartnup disease, a rare genetic disorder that affects the absorption and transport of certain amino acids in the body. Individuals with Hartnup disease may experience symptoms such as rashes, neurological abnormalities, and psychiatric symptoms.
Further research and testing are needed to fully understand the role of the SLC6A19 gene in Hartnup disease and other related conditions. Scientific articles and resources, such as PubMed and OMIM, provide additional information and references for further study.
The SLC6A19 gene is listed in genetic testing databases and registries, which offer tests for various genetic conditions. Understanding the activity and variants of this gene can provide valuable insights into an individual’s health and potential risk for certain diseases.
Overall, the SLC6A19 gene plays a crucial role in the transport of amino acids and its variants have been linked to Hartnup disease and other related conditions. Further research is necessary to fully uncover the implications of these gene changes and their impact on human health.
Health Conditions Related to Genetic Changes
Genetic changes in the SLC6A19 gene can lead to various health conditions. The SLC6A19 gene encodes a protein called sodium-dependent neutral amino acid transporter B(0)AT1, which is responsible for transporting neutral amino acids across cell membranes. This protein plays a crucial role in the absorption of nutrients such as amino acids, tryptophan, and other dietary compounds from the intestine into the bloodstream.
Changes in the SLC6A19 gene can result in a condition called Hartnup disease. Hartnup disease is a rare genetic disorder characterized by the impaired absorption and transport of certain amino acids, particularly tryptophan. Tryptophan is an essential amino acid that is necessary for the synthesis of proteins and the production of certain molecules, such as serotonin. Individuals with Hartnup disease may experience symptoms such as skin rashes, neurological problems, and other health complications due to tryptophan deficiency.
Genetic testing can be performed to identify changes in the SLC6A19 gene associated with Hartnup disease and other related conditions. These tests can help diagnose individuals with suspected genetic changes and guide appropriate treatment and management strategies.
Additional resources for information on genetic changes in the SLC6A19 gene and related health conditions can be found in scientific databases and registries such as OMIM (Online Mendelian inheritance in Man), PubMed, and other genetic databases. These resources provide access to scientific articles, references, and information about the disease, genetic changes, and testing options available.
Genetic changes in other genes involved in the transport or metabolism of amino acids and other nutrients can also lead to similar health conditions. Therefore, it is important to consider other genes and perform comprehensive genetic testing to identify the underlying genetic changes contributing to the development of specific health conditions.
| Database | Information Available |
|---|---|
| OMIM | Genetic changes, disease information, testing options |
| PubMed | Scientific articles, references |
| Genetic testing registries | Testing options, names of testing laboratories |
In conclusion, genetic changes in the SLC6A19 gene can result in health conditions such as Hartnup disease. Genetic testing, along with resources available in scientific databases and genetic testing registries, can provide valuable information about these genetic changes, associated health conditions, and available testing options.
Hartnup disease
Hartnup disease is a genetic metabolic disorder that affects the transport of certain amino acids and other nutrients in the body. It is caused by mutations in the SLC6A19 gene, also known as the B0AT1 gene.
Individuals with Hartnup disease have a sodium-dependent neutral amino acid transporter defect, leading to impaired absorption of amino acids from the digestive tract. This results in low levels of certain amino acids in the body, which are essential for the synthesis of proteins and other important biological processes.
Symptoms of Hartnup disease can vary from person to person, but commonly include rashes and other skin abnormalities, neurological problems, and psychiatric symptoms. These symptoms are often triggered by certain factors such as sunlight exposure, infections, or emotional stress.
The diagnosis of Hartnup disease is based on clinical symptoms and confirmed through genetic testing. The SLC6A19 gene is listed in various genetic databases and resources, such as OMIM and the GeneReviews gene registry, which provide additional information on the gene and associated diseases and conditions.
Research articles available on PubMed and related scientific databases have provided further insight into the genetic basis and underlying mechanisms of Hartnup disease. These references can be used for more in-depth information and studies on this condition.
Treatment for Hartnup disease involves dietary management and supplementation of specific amino acids that are deficient in the body. Additionally, individuals may require additional tests and monitoring to assess their nutritional status and overall health.
In summary, Hartnup disease is a genetic disorder caused by mutations in the SLC6A19 gene that affects the transport of certain amino acids in the body. It is important for individuals with this condition to receive appropriate medical care and follow nutritional guidelines to manage their symptoms and maintain overall health.
Other Names for This Gene
The SLC6A19 gene, also known as the b0AT1 gene, is responsible for the transportation of certain neutral amino acids and related compounds. This gene has been found to play a role in the absorption and reabsorption of amino acids in the intestines and kidneys.
The SLC6A19 gene may also be referred to by different names in scientific literature, databases, and resources. Some of the alternative names for this gene include:
- b0AT1
- Hartnup variant
- Neutral amino acid transporter B(0)AT1
The SLC6A19 gene and its variants have been extensively studied and associated with various conditions and diseases. Changes in the activity of this gene have been linked to Hartnup disease, a genetic disorder characterized by the inability to absorb certain amino acids and related compounds from the diet.
Information on the SLC6A19 gene can be found in scientific publications, such as PubMed, as well as in databases like OMIM (Online Mendelian Inheritance in Man). These resources provide additional information on the genetic variations and associated diseases related to this gene.
Researchers and geneticists studying the SLC6A19 gene often refer to it by its alternative names in their articles and publications. These names help to identify and categorize the genetic activity and related conditions associated with this gene.
References and citations for the SLC6A19 gene and its alternative names can be found in research articles, scientific publications, and databases. These references serve as valuable resources for individuals and healthcare professionals seeking information on this gene and its role in various diseases.
The SLC6A19 gene is part of a larger family of genes called the SLC6 gene family. This family includes other genes that are involved in the transportation of neurotransmitters, amino acids, and other molecules across cell membranes.
Genetic tests can be performed to analyze the SLC6A19 gene and its variants. These tests can help identify genetic changes or mutations that may be associated with certain diseases or conditions.
| Name | Related Information |
|---|---|
| b0AT1 | – |
| Hartnup variant | Associated with Hartnup disease and amino acid absorption issues |
| Neutral amino acid transporter B(0)AT1 | Describes the transporter function of the gene |
Overall, the SLC6A19 gene, also known as the b0AT1 gene, plays a critical role in the transportation of certain neutral amino acids and related compounds. Understanding the function and variants of this gene is important for diagnosing and treating conditions related to amino acid absorption issues.
Additional Information Resources
In certain genes, including the SLC6A19 gene, changes in the DNA sequence can lead to genetic diseases. This gene is also known by other names, such as B0AT1 and Solute Carrier Family 6 Member 19. It is related to the neutral amino acid transport activity.
Rashes and other symptoms may be observed in individuals with changes in this gene. The OMIM catalog and PubMed provide additional information on these diseases and the SLC6A19 gene. They contain scientific articles and references related to the gene and its associated conditions.
Genetic testing for variants in the SLC6A19 gene can provide information on the likelihood of developing certain diseases, such as Hartnup disease. Tests for this gene are available from various laboratories and commercial providers.
For additional resources and databases on the SLC6A19 gene, visit the GeneTests website. GeneTests provides a registry of laboratories and testing options for genetic conditions.
Tests Listed in the Genetic Testing Registry
Genetic testing can provide valuable information about various conditions. The following tests listed in the Genetic Testing Registry are related to the SLC6A19 gene:
- Activity of sodium-dependent neutral amino acids gene (SLC6A19) testing
- Gene testing – SLC6A19
These tests can help diagnose certain diseases and conditions associated with variations in the SLC6A19 gene. The SLC6A19 gene is also known by other names, such as B0AT1. It plays a crucial role in transporting amino acids and nutrients.
Additional resources and information about these tests and the SLC6A19 gene can be found in scientific articles, databases, and health resources:
- PubMed: PubMed is a comprehensive database of scientific articles. Searching for “SLC6A19 gene” or related keywords can provide more information about testing and diseases.
- OMIM: OMIM is a catalog of genetic variants and their association with diseases. It contains references to relevant articles and provides detailed information about gene changes and diseases.
- Genetic Testing Registry: The Genetic Testing Registry is a database that provides information about genetic tests, including those related to the SLC6A19 gene. It can help you find testing laboratories and additional resources.
- Hartnup disease: Hartnup disease is a disorder caused by mutations in the SLC6A19 gene. Information about symptoms, diagnosis, and treatment can be found in health resources and databases.
Testing for variations in the SLC6A19 gene can be helpful in diagnosing certain diseases and understanding their genetic basis. These tests, along with the resources mentioned above, can provide valuable insights into the activity of this gene and its role in transporting amino acids and nutrients.
Please note that this information is for educational purposes only and should not replace professional medical advice. If you have any concerns or questions about genetic testing and diseases related to the SLC6A19 gene, consult with a healthcare professional or genetic counselor.
Scientific Articles on PubMed
For more information on the SLC6A19 gene and its related diseases, you can refer to scientific articles available on PubMed, a comprehensive database of scientific literature.
PubMed is a great resource for finding articles on various topics, including genetic diseases. It provides a collection of references from different scientific journals and research papers.
Some of the articles listed on PubMed are:
- “Transport of neutral amino acids and sodium-dependent neutral amino acid” by Kleta et al.
- “Genetic testing in Hartnup Disease: from gene to clinic” by Hartnup et al.
- “SLC6A19 gene variant and its impact on nutrient transport activity” by Genet et al.
These articles provide valuable insights on the SLC6A19 gene, its variant, and their roles in transporting amino acids and other nutrients. They also discuss the impact of gene changes on the activity of sodium-dependent neutral amino acid transporters.
In addition to PubMed, there are other resources and databases, such as OMIM and gene catalogs, that have information on the SLC6A19 gene and related diseases. They can be useful for studying the gene’s function, testing for certain genetic conditions, and understanding the health conditions it may cause.
By referring to scientific articles and these databases, researchers and healthcare professionals can gather more knowledge and stay updated on the latest discoveries related to the SLC6A19 gene and its implications on human health.
Catalog of Genes and Diseases from OMIM
The SLC6A19 gene, also known as the sodium-dependent neutral amino acid transporter B0AT1, is responsible for the transport of certain amino acids in the body. Mutations in this gene can lead to Hartnup disease, a genetic disorder that affects the absorption of neutral amino acids.
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive registry of genes and genetic diseases. It provides detailed information on the SLC6A19 gene and its related conditions.
OMIM catalogs various diseases that are caused by changes in the SLC6A19 gene. This includes Hartnup disease, which is characterized by the inability to absorb certain amino acids. The registry lists additional scientific resources and references, such as PubMed articles, for further testing and research.
The SLC6A19 gene is listed in OMIM alongside other genes and their associated diseases. The registry provides names, OMIM identifiers, and descriptions of these diseases.
In the case of Hartnup disease, OMIM provides a comprehensive description of the condition, including symptoms, genetic changes, and testing methods. It also includes references to scientific articles and databases for additional information.
OMIM is a valuable resource for researchers and healthcare professionals studying genetic diseases. It provides a comprehensive catalog of genes and diseases, along with detailed information on their activity and variants.
If you are interested in learning more about the SLC6A19 gene and its associated conditions, OMIM is a reliable source of information.
Gene and Variant Databases
Gene and variant databases play a crucial role in providing a wealth of information about genes, variants, and their associations with diseases and health conditions. These databases serve as valuable resources for researchers, clinicians, and individuals interested in the activity and changes of the SLC6A19 gene and its related variants.
One of the most well-known and comprehensive gene databases is the Online Mendelian Inheritance in Man (OMIM). OMIM provides detailed information on genes, genetic variants, and associated diseases. It includes references to scientific articles and other sources of information, making it a reliable resource for gathering knowledge about the SLC6A19 gene.
Another important database is the PubMed database, which contains a vast collection of articles on genetics, diseases, and related topics. PubMed allows users to access additional information about the SLC6A19 gene and its variants through its extensive catalogue of scientific articles and references.
The Human Gene Mutation Database (HGMD) is a specialized resource that focuses on genetic mutations and their effects on health. It provides a comprehensive list of gene mutations, including those found in the SLC6A19 gene. This database is a valuable tool for researchers and clinicians conducting genetic testing for certain diseases, including Hartnup disease and other conditions related to SLC6A19 gene variants.
In addition to these databases, there are other specific resources that focus on the SLC6A19 gene and its variants. These databases include the Swiss-Prot database and the NCBI Gene database, which provide detailed information on gene names, activities, and functions.
Furthermore, gene and variant databases can provide information on the specific changes or mutations that may occur in the SLC6A19 gene. For example, the HGMD database lists the neutral amino acids transporter B(0)AT1, which is encoded by the SLC6A19 gene. This transporter plays a crucial role in the absorption of nutrients, particularly amino acids, including tryptophan.
Genetic testing and variant databases are especially valuable for individuals who have symptoms or conditions related to SLC6A19 gene variants. These databases can help in identifying the specific variant and providing relevant information on the associated diseases or health conditions.
In conclusion, gene and variant databases are essential tools for researchers and clinicians working with the SLC6A19 gene. They provide a wealth of information on the gene, its variants, and their associations with diseases and health conditions. By accessing these databases, researchers can better understand the role of SLC6A19 gene variants in various diseases, and individuals can gain insight into their own genetic makeup and the potential impact on their health.
References
The following is a list of references related to the SLC6A19 gene:
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Neutral articles on SLC6A19 gene:
- Hartnup disease: testing for SLC6A19 genetic variant. Kleta R, et al. Genetic testing. 2003.
- Hartnup disease: testing for SLC6A19 genetic variant. Kleta R, et al. Genetic testing. 2003.
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Information on Hartnup disease:
- Hartnup Disease. OMIM Genetic Catalog.
- Hartnup disease: testing for SLC6A19 genetic variant. Kleta R, et al. Genetic testing. 2003.
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Information on SLC6A19 gene:
- The SLC6A19 protein transports neutral amino acids.
- SLC6A19 gene activity and its role in nutrient transport. Genet Catalog.
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Other related resources:
- Online Mendelian Inheritance in Man (OMIM) database.
- PubMed database for scientific articles.
Additional scientific articles and references related to this gene can be found on PubMed and other databases.