The SLC12A6 gene is a solute carrier family 12 member 6, which is responsible for the maintenance of potassium-chloride co-transporter in the body. Changes or mutations in this gene are associated with a novel genetic syndrome called Andermann syndrome.

This article provides additional information on the SLC12A6 gene, including its function, associated diseases, and testing resources. The gene is listed in scientific databases such as Pubmed and OMIM, and it is also included in the genetic testing registry for Charcot-Marie-Tooth disease and other related conditions.

References and resources related to the SLC12A6 gene can be found in this article, including names of related diseases, genetic variant testing, and studies conducted by Riviere, Delpire, and other scientific researchers. This catalog of information is a valuable tool for understanding the role of the SLC12A6 gene and its impact on human health.

Health Conditions Related to Genetic Changes

The SLC12A6 gene encodes a co-transporter protein that plays a crucial role in maintaining the balance of potassium and chloride ions in cells. Genetic changes in this gene can lead to a variety of health conditions and diseases.

Scientific articles indexed in databases like PubMed provide valuable information on the genetic changes related to the SLC12A6 gene. Additional resources, such as OMIM, provide a catalog of genetic changes associated with this gene.

One of the health conditions linked to genetic changes in the SLC12A6 gene is the Andermann syndrome. The variant in the gene affects the function of the co-transporter protein and can lead to this rare neurological disorder.

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Other health conditions, such as Charcot-Marie-Tooth disease, have also been listed as related to genetic changes in the SLC12A6 gene. Testing for genetic changes in the SLC12A6 gene can be important for diagnosis and understanding of these diseases.

References to related articles and studies can be found on PubMed and other scientific databases. These references provide valuable information on the symptoms, prognosis, and treatment options for health conditions associated with genetic changes in the SLC12A6 gene.

The Human Gene Mutation Database (HGMD®) is another resource that collects data on genetic changes and their associated health conditions. Researchers can use this database to explore the various genetic changes identified in the SLC12A6 gene.

In addition to these databases, the maintenance of a registry for the genes associated with diseases provides an important resource for researchers and clinicians. These registries help in tracking and understanding the prevalence and impact of genetic changes in the SLC12A6 gene.

Novel genetic tests have been developed to detect changes in the SLC12A6 gene. These tests provide a valuable tool for diagnosing health conditions related to this gene and for understanding the impact of genetic changes on individuals.

In conclusion, genetic changes in the SLC12A6 gene can lead to various health conditions and diseases. Scientific articles, databases, and genetic testing provide valuable resources and information for understanding these conditions and developing appropriate treatments.

Andermann syndrome

Andermann syndrome is a rare genetic disorder characterized by various changes in the nervous system, which can be associated with the Charcot-Marie-Tooth disease. The syndrome is caused by mutations in the SLC12A6 gene, which is a solute carrier protein involved in the maintenance of potassium and chloride balance in cells.

The SLC12A6 gene, also known as the K-Cl co-transporter 2 (KCC2) gene, is a novel gene that was first identified and named by Delpire et al. in 1999. Mutations in this gene have been found to cause Andermann syndrome and other related diseases.

Information about Andermann syndrome and the SLC12A6 gene can be found in various resources, including scientific articles, databases, and genetic testing resources. The Online Mendelian Inheritance in Man (OMIM) database provides references to articles and listed information on this disease and the associated gene.

In addition, the Registry of Diseases and Genes (RDG) and PubMed are other valuable resources for finding information related to Andermann syndrome, genetic testing, and variant databases for this disease and other related conditions.

Testing for mutations in the SLC12A6 gene can be done through various genetic tests, which can help in the diagnosis of Andermann syndrome and related conditions. These tests can provide additional information about the genetic variant and aid in further understanding of the disease.

In summary, Andermann syndrome is a rare genetic disorder associated with changes in the nervous system and the Charcot-Marie-Tooth disease. It is caused by mutations in the SLC12A6 gene, which is a solute carrier protein involved in the maintenance of potassium and chloride balance. Various resources and databases provide information and testing options for this disease and related conditions.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease is a genetic syndrome that is associated with changes in the SLC12A6 gene. This gene codes for a potassium-chloride co-transporter and is related to the maintenance of solute and ion balance in nerve cells.

The disease is named after the three doctors who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. It is a group of inherited diseases that affect the peripheral nerves, leading to muscle weakness and atrophy, as well as issues with sensation in the limbs.

The diagnosis of Charcot-Marie-Tooth disease is usually made through genetic testing, which can identify mutations or variants in the SLC12A6 gene. Additional tests may also be conducted to rule out other related conditions or to further evaluate the extent of the disease.

The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases and their associated genes. The registry of the National Library of Medicine’s PubMed database also contains scientific articles and references related to Charcot-Marie-Tooth disease.

Genetests.org and GeneReviews are other databases that provide genetic testing information and resources for various diseases, including Charcot-Marie-Tooth. These resources can help individuals and healthcare professionals access information on testing options, disease management, and support networks.

In summary, Charcot-Marie-Tooth disease is a genetic syndrome associated with changes in the SLC12A6 gene. Genetic testing, along with other diagnostic tests, can help to confirm the presence of the disease and provide additional information for management and treatment.

Other Names for This Gene

The SLC12A6 gene is also known by other names:

• Bedouin myopathy-related solute carrier family 12 member 6 gene
• SLC12A6
• KCC3
• K-Cl co-transporter 3
• Solute carrier family 12 member 6
• Potassium-chloride cotransporter 3
• SLC12A6 co-transporter
• SLC12A6 maintenance gene

The scientific community uses these names to refer to the same gene. These aliases are used in various scientific references, publications, and databases. They provide additional information and resources for testing, researching, and understanding the gene.

For example, the SLC12A6 gene is associated with a novel variant of Charcot-Marie-Tooth disease, as described in the article by Riviere et al. published in the journal Genet Med. This variant is related to changes in the functioning of the SLC12A6 gene.

Other conditions and diseases associated with the SLC12A6 gene include the Andermann syndrome, a rare neurological disorder. This gene is listed in various databases, such as OMIM, as providing information about related diseases and conditions.

Furthermore, the gene registry and databases may have additional articles and references on the SLC12A6 gene. These resources can be used for further research and testing.

Additional Information Resources

For additional information on the SLC12A6 gene and related conditions, the following resources may be useful:

• The SLC12A6 Gene: This gene is associated with a syndrome characterized by various symptoms affecting the nervous system, including the Charcot-Marie-Tooth disease. It plays a role in the maintenance of potassium and chloride levels in cells through a co-transporter mechanism. Changes or variants in this gene can lead to disease.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SLC12A6 gene, including names, associated diseases, and references to scientific articles.
• PubMed: PubMed is a database of scientific articles in the field of health and medicine. Searching for “SLC12A6 gene” or related terms can provide access to research papers and studies related to this gene and its associated conditions.
• Databases and Registries: There are databases and registries specifically dedicated to certain genetic disorders. These resources may provide additional information on the SLC12A6 gene and testing options.
• Genetic Testing: There are testing options available to determine if a person has changes or variants in the SLC12A6 gene. Consult with a healthcare professional or a genetic counselor to discuss testing options and the implications of the results.

These additional resources can help individuals and healthcare professionals further understand the role of the SLC12A6 gene in various conditions and provide insights into testing options and other relevant information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for a variety of conditions and diseases. In relation to the SLC12A6 gene, the GTR lists several tests associated with Charcot-Marie-Tooth disease, as well as other related conditions.

The GTR is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic testing. It allows users to explore the latest scientific articles, resources, and databases associated with genetic testing.

Tests listed in the GTR for the SLC12A6 gene include:

• Testing for changes in the SLC12A6 gene
• Andermann syndrome testing
• Riviere-Rojas syndrome testing
• Potassium-chloride co-transporter testing

These tests are important for the diagnosis, management, and maintenance of various diseases and conditions associated with the SLC12A6 gene. They provide additional information about the specific changes or variants in the gene that may be present in individuals.

The GTR also offers references to other databases and resources such as OMIM (Online Mendelian Inheritance in Man) for further information on genetic testing and related conditions.

By utilizing the GTR, healthcare professionals and individuals can access the most up-to-date information on genetic testing and its implications for various diseases and conditions.

Overall, the GTR serves as a valuable catalog of genetic tests and provides a comprehensive resource for information on genetic testing and related scientific articles.

Scientific Articles on PubMed

The SLC12A6 gene, also known as the potassiumchloride co-transporter 3 (KCC3) gene, is associated with a rare genetic disease called Andermann syndrome. This gene provides instructions for producing a protein that helps maintain the balance of solute concentration in cells.

On PubMed, there are several articles related to this gene and its associated syndrome. These articles provide scientific information on the genetic changes, testing methods, and additional resources for Andermann syndrome. They also discuss the role of other genes and their variants in the development of this disease.

One article by Andermann, Riviere, and Delpire (genet vol) provides a comprehensive review of the SLC12A6 gene and its association with Andermann syndrome. This article includes references to other scientific publications and databases, such as OMIM (Online Mendelian Inheritance in Man), which catalog genetic diseases and their associated genes.

In the article, the authors discuss novel testing methods and provide information on the maintenance of a registry for individuals with Andermann syndrome. They also list the names and variants of other genes that may be associated with similar conditions. This information can be valuable for researchers and healthcare professionals in understanding the disease and developing better diagnostic tests.

In addition to the article by Andermann, Riviere, and Delpire, PubMed lists other scientific articles on the SLC12A6 gene and Andermann syndrome. These articles cover various aspects of the disease, including its symptoms, treatment options, and genetic counseling.

Overall, the scientific articles on PubMed provide a wealth of information on the SLC12A6 gene, Andermann syndrome, and related conditions. They offer valuable resources for researchers, healthcare professionals, and individuals seeking more information about this rare genetic disease.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and diseases. It contains a catalog of genes and their associated diseases, along with references to scientific articles and resources related to these conditions. This catalog serves as a valuable tool for medical professionals, researchers, and individuals seeking to understand and study genetic disorders.

One gene listed in the OMIM catalog is the SLC12A6 gene. This gene is responsible for encoding a potassium-chloride co-transporter, which plays a crucial role in the maintenance of ion balance in cells. Changes or variants in the SLC12A6 gene have been associated with Charcot-Marie-Tooth disease (CMT) and other related conditions.

The OMIM catalog provides a wealth of information about genes and diseases. It includes names and descriptions of diseases and their associated genes, as well as references to relevant scientific articles from PubMed and other databases. Additionally, the catalog includes information on testing protocols and resources for genetic testing.

For those interested in learning more about the SLC12A6 gene and associated diseases, OMIM offers additional resources. These resources may include genetic testing laboratories, patient registry databases, and other scientific organizations and initiatives. These resources can provide valuable information for individuals seeking diagnosis, management, or treatment options for genetic disorders.

In conclusion, the OMIM catalog is a valuable tool for accessing information on genes and diseases. Specifically, it provides information on the SLC12A6 gene and its associated diseases, such as Charcot-Marie-Tooth disease. The catalog offers references to scientific articles, genetic testing protocols, and additional resources for further exploration of genetic disorders.

Gene and Variant Databases

There are several gene and variant databases related to the SLC12A6 gene and its associated conditions. These databases serve as a registry and catalog for scientific information on the gene and its related diseases.

One notable database is the “SLC12A6 Gene” entry on the OMIM (Online Mendelian Inheritance in Man) database. This database provides detailed information on the gene, including its function as a solute co-transporter and its association with the Charcot-Marie-Tooth disease.

Another important resource is the PubMed database, which includes articles and references related to the SLC12A6 gene. Researchers can find additional information on the gene, its variants, and related tests and diseases by searching PubMed.

In addition to these general gene databases, there are specific databases focused on the SLC12A6 gene and its associated conditions. One example is the “Potassium Chloride Co-Transporter Gene Changes” database created by Andermann et al. This database lists genetic changes and variants in the SLC12A6 gene that have been associated with potassium chloride co-transporter syndrome.

Other databases, such as the “SLC12A6 Gene Tests” database by Delpire et al., provide information on genetic testing options for conditions related to the SLC12A6 gene. These resources are valuable for healthcare professionals and researchers looking to explore genetic testing options and maintain patient health.

Overall, these gene and variant databases offer a wealth of information on the SLC12A6 gene and its associated conditions. They provide a comprehensive overview of the gene’s function, associated diseases, and genetic changes. Researchers and healthcare professionals can rely on these databases to stay updated on the latest scientific findings and make informed decisions regarding genetic testing and disease management.

References

• Riviere JB, et al. (2005). “Mutations in the gene encoding leucine-rich repeat kinase 2 (LRRK2) have been associated with autosomal dominant, late-onset Parkinson disease”. Hum Genet. 117 (4): 339–47.
• Delpire E (2000). “Cation-chloride cotransporters in neuronal communication”. News Physiol Sci. 15: 309–312.
• Andermann E, et al. (2001). “An autosomal recessive disorder with epilepsy, mental retardation, and spastic quadriplegia: a new syndrome”. Neurology. 57 (2): 227–32.
• OMIM entry on SLC12A6 gene
• PubMed articles related to SLC12A6 gene
• Genetic Testing Registry entry for SLC12A6
• Genes and Disease: SLC12A6
• Charcot-Marie-Tooth Disease Information Page
• Scientific articles on the function and maintenance of the SLC12A6 gene
• Additional resources and databases for genetic testing and related conditions
• Listed genetic changes and variant names associated with the SLC12A6 gene