The SLC9A6 gene, also known as the sodiumhydrogen exchangers related to Christianson (NHE-RF), plays a crucial role in the recycling and changes of sodium and hydrogen ions in cells. Mutations in this gene are associated with a rare genetic condition known as Christianson syndrome.
The SLC9A6 gene is listed in various genetic databases and resources, including OMIM and PubMed. These databases provide additional information on the gene, as well as references to scientific articles and testing resources. Testing for variants in the SLC9A6 gene can be done through genetic testing and can help diagnose Christianson syndrome and other related conditions.
Scientists have discovered that the SLC9A6 gene is involved in the regulation of ion transport and maintaining the balance of ions within cells. It is located in a specific compartment called the recycling organelle and works together with other genes and proteins to ensure proper cellular function.
Further research is being conducted to elucidate the precise mechanisms by which mutations in the SLC9A6 gene lead to the development of Christianson syndrome and other diseases. Understanding these mechanisms can provide insights into potential treatments and interventions for individuals affected by these conditions.
Health Conditions Related to Genetic Changes
This section discusses health conditions that are related to genetic changes in the SLC9A6 gene. The SLC9A6 gene encodes a protein known as sodium/hydrogen exchanger 6 (NHE6). This protein is involved in the recycling of sodium and hydrogen ions within cells and helps maintain the pH balance of cellular compartments.
Genetic changes in the SLC9A6 gene can result in a condition called Christianson syndrome. Christianson syndrome is a rare genetic disorder characterized by intellectual disability, seizures, movement abnormalities, and autistic-like behaviors. It primarily affects males and symptoms usually appear during early childhood. The severity of symptoms can vary widely among affected individuals.
The genetic changes that cause Christianson syndrome include deletions, insertions, duplications, and other types of rearrangements in the SLC9A6 gene. These changes can disrupt the normal function of the NHE6 protein, leading to the signs and symptoms of the condition.
Additional health conditions related to genetic changes in the SLC9A6 gene may also exist. A comprehensive list of these conditions can be found in the OMIM database. The OMIM database provides a catalog of human genes and genetic disorders and includes links to relevant scientific articles, references, resources, and testing laboratories.
Testing for genetic changes in the SLC9A6 gene can be done through targeted gene sequencing or genetic testing panels that include this gene. Genetic testing can provide confirmation of a suspected diagnosis, help guide treatment decisions, and provide information about recurrence risks for family members.
For individuals with a diagnosis of Christianson syndrome or other related genetic conditions, it is important to work closely with healthcare providers who specialize in the management of these disorders. These specialists can provide guidance on available treatments, therapies, and interventions to help maximize quality of life and provide support to affected individuals and their families.
References:
- SLC9A6 gene. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.ncbi.nlm.nih.gov/gene/10479
- Christianson Syndrome. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/10108/christianson-syndrome
- OMIM database. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org
- PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov
Christianson syndrome
Christianson syndrome is a genetic condition that affects the SLC9A6 gene. It is also known as sodium/proton exchangers family protein NHE6 deficiency or Mental Retardation, X-linked, Syndromic 16 (OMIM #300243).
This syndrome is associated with changes or mutations in the SLC9A6 gene. The SLC9A6 gene provides instructions for making a protein that is involved in the recycling of molecules within cells. This protein is found in a compartment of the cell called the endosome, which is responsible for sorting and processing molecules for reuse or disposal.
Christianson syndrome is characterized by intellectual disability, developmental delay, speech impairment, and problems with balance and coordination. Individuals with this condition often have difficulty swallowing and may experience seizures. The severity of symptoms can vary widely among affected individuals.
Genetic testing can be used to confirm a diagnosis of Christianson syndrome. Testing can detect changes in the SLC9A6 gene that are associated with the condition. Additional tests, such as brain imaging or metabolic testing, may be recommended to help evaluate and manage the specific symptoms of each individual.
There are currently no specific treatments for Christianson syndrome. Management involves addressing the individual symptoms and providing supportive care. This may include therapies to improve speech and physical abilities, medications to control seizures, and treatment for any associated health conditions.
For more information about Christianson syndrome, you can visit the Christianson Syndrome Registry and Resource Group or refer to the following resources:
- OMIM database: OMIM #300243
- PubMed articles related to Christianson syndrome
- Scientific articles and references on Christianson syndrome listed in various databases
- Other genetic databases and resources
Other Names for This Gene
- SLC9A6 gene
- Chromosome X open reading frame 47
- Chromosome X open reading frame 2
- Chromosome X open reading frame 4
- Chromosome X open reading frame 3
- NHE6
- FLJ32463
- FLJ41739
- FLJ41942
- Recycling endosome protein 1
- Sodium-hydrogen exchanger 6
- Na(+)/H(+) exchanger 6
- Solute carrier family 9 member 6
The SLC9A6 gene, also known by other names such as “Chromosome X open reading frame 47” and “Recycling endosome protein 1,” is involved in the regulation of sodium-hydrogen exchange in cells. This gene is cataloged in various scientific databases, including the Online Mendelian Inheritance in Man (OMIM) and PubMed, and is associated with the genetic condition known as Christianson syndrome.
Changes in this gene can lead to the development of Christianson syndrome, a rare X-linked disorder characterized by intellectual disability, seizures, and movement abnormalities. The protein encoded by the SLC9A6 gene is responsible for transporting sodium and hydrogen ions across cell membranes, playing a crucial role in maintaining the balance of these ions within cellular compartments.
For additional information on this gene and its role in Christianson syndrome, refer to the references and resources listed below:
- OMIM: https://omim.org/entry/300243
- PubMed: https://pubmed.ncbi.nlm.nih.gov/28261914
- Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/genes/376918/
- Health-Related Articles: https://pubmed.ncbi.nlm.nih.gov/?term=SLC9A6
Further research and testing of this gene are essential for a better understanding of its impact on health and its potential role in other genetic conditions and diseases related to sodium-hydrogen exchangers.
Additional Information Resources
For additional scientific information on the SLC9A6 gene, related proteins, and other genetic changes, you can refer to the following resources:
- Genetic Testing Registry (GTR): This database provides information on genetic tests available for the SLC9A6 gene and other related genes.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the SLC9A6 gene and related disorders.
- PubMed: PubMed is a database of scientific articles, including research papers on the SLC9A6 gene and its associated diseases.
- CHRISTIANSON SYNDROME (CSS) REGISTRY: This registry collects information on individuals diagnosed with Christianson syndrome and facilitates communication between families, researchers, and healthcare providers.
These resources can provide further information on the role of the SLC9A6 gene in cellular processes, its variant changes, and its involvement in various diseases and conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) lists various tests related to the SLC9A6 gene. These tests help in the diagnosis of different conditions and diseases associated with changes in this gene. The GTR is a central resource for information on genetic tests from multiple health-related resources.
In the GTR, you can find information on the genetic tests for Christianson syndrome and other related conditions. These tests focus on identifying changes or variants in the SLC9A6 gene. By analyzing the genetic material, such as DNA or RNA, from cells or tissues, these tests can provide valuable diagnostic information.
The GTR provides several additional resources, including references to scientific articles and databases like PubMed and OMIM. These resources offer further information on the genes, proteins, and health conditions related to the SLC9A6 gene.
Furthermore, the GTR also includes information on other genes, proteins, and conditions that have a relationship with the sodiumhydrogen exchangers. This highlights the interconnectedness between the SLC9A6 gene and other genetic components involved in various cellular processes such as recycling and organelle compartment.
By utilizing the resources in the GTR, healthcare professionals and researchers can access comprehensive information on the tests related to the SLC9A6 gene. The GTR serves as a vital tool for understanding the genetic basis of diseases and conditions associated with this gene.
Scientific Articles on PubMed
The SLC9A6 gene, also known as the sodiumhydrogen exchanger 6 (NHE6) gene, plays a crucial role in various genetic and related diseases. Changes in this gene can lead to the development of several health conditions.
Scientific articles related to the SLC9A6 gene can be found on PubMed, which is a comprehensive database of genetic and scientific research. The articles listed on PubMed provide valuable information about the genetic variants and changes in this gene that may contribute to the development of diseases and syndromes.
One such syndrome related to the SLC9A6 gene is Christianson syndrome, which is characterized by intellectual disability, speech impairments, and movement abnormalities. Scientists have conducted numerous studies to understand the genetic basis of Christianson syndrome and have published their findings on PubMed.
| Available Resources | Description |
|---|---|
| PubMed | A comprehensive database of scientific articles |
| OMIM | An online catalog of human genes and genetic conditions |
| GeneTests | A registry of genetic tests for various diseases and conditions |
Researchers have identified that the SLC9A6 gene codes for proteins that function as sodium-hydrogen exchangers, which are involved in maintaining the pH balance of cells and regulating ion transport across cell membranes. They have studied the role of this gene and its variant forms in different cellular processes and organelle compartment systems.
PubMed is a valuable resource for accessing scientific articles and references pertaining to the SLC9A6 gene. The database provides access to articles published in various scientific journals, making it a reliable source for information on this gene and its related diseases. Researchers and healthcare professionals can use PubMed to stay updated with the latest research on the SLC9A6 gene and its implications in human health.
Additionally, other databases like OMIM and GeneTests provide further resources and information about the SLC9A6 gene and its association with genetic diseases and conditions. These resources catalog the genetic testing available for specific gene variants and provide additional references for researchers and clinicians.
By exploring the scientific articles available on PubMed and utilizing the resources provided by other databases, researchers and healthcare professionals can gain a deeper understanding of the SLC9A6 gene and its role in various diseases and conditions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic diseases and related genes. It serves as a valuable resource for healthcare professionals, researchers, and individuals interested in understanding genetic conditions.
The SLC9A6 gene, also known as the sodium/hydrogen exchanger 6 gene, is one of the many genes listed in the OMIM catalog. Mutations in this gene have been linked to a rare genetic disorder known as Christianson syndrome. Christianson syndrome is characterized by severe intellectual disability, epilepsy, and movement disorders.
OMIM provides detailed information on the SLC9A6 gene and its associated condition. This includes the genetic changes, cellular compartment, and function of the gene. In addition to the SLC9A6 gene, OMIM also includes information on thousands of other genes and their related conditions.
The OMIM catalog is organized in a user-friendly manner, allowing easy access to information on specific genes and diseases. The database provides detailed descriptions, genetic testing resources, and additional references to scientific articles and publications. Users can search for genes and diseases using gene names, disease names, or keywords.
OMIM is a trusted source of information for healthcare professionals involved in genetic testing and counseling. It provides an extensive list of genetic conditions and the associated genes, making it a valuable resource for diagnosing and managing genetic disorders.
Overall, the OMIM catalog serves as an invaluable tool for researchers, healthcare professionals, and individuals seeking information on genetic diseases. It provides a comprehensive database of genes and diseases, helping to advance our understanding of genetics and improve patient care.
Gene and Variant Databases
Gene and variant databases are valuable resources for scientific research on genes and proteins. They provide information about the SLC9A6 gene and other related genes and proteins involved in the Christianson syndrome, as well as various other conditions and diseases.
One of the most commonly used databases is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on the SLC9A6 gene, including its functions, associated disorders, and genetic changes. It also includes references to scientific articles and additional resources for further reading.
Another important database is the PubMed database, which contains a vast collection of scientific articles related to the SLC9A6 gene and Christianson syndrome. Researchers can search for specific articles using keywords or gene names, such as SLC9A6, to find relevant information.
Gene and variant databases also include genetic testing resources. These databases catalog different genetic tests available for the SLC9A6 gene and related genes. They provide information on the names of the tests, the testing laboratories, and any available details about the accuracy and reliability of the tests.
In addition to genetic testing resources, gene and variant databases also provide information on changes in the SLC9A6 gene. These changes are listed in a registry or catalog and include details about the specific variant, its frequency in different populations, and any known associations with diseases or conditions.
Furthermore, gene and variant databases may provide information on the cellular compartment or organelle where the SLC9A6 gene and its protein are located. This information is important for understanding the function and localization of the protein in cells.
Overall, gene and variant databases are crucial resources for scientists and healthcare professionals studying the SLC9A6 gene and its role in health and disease. They provide a wealth of information on the gene, its associated conditions, genetic changes, testing resources, and additional references for further research.
References
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Christianson Syndrome. In: GeneReviews® [Internet]. Pagon RA, Adam MP, Ardinger HH, et al., editors. Seattle (WA): University of Washington, Seattle; 2015.
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SLC9A6 gene. Genes and Diseases. Bethesda (MD): National Center for Biotechnology Information; 2015 Nov 19. Available from: https://www.ncbi.nlm.nih.gov/gene/10479/.
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Sodium-hydrogen Exchangers. In: Signal Transduction Knowledge Environment [Internet]. Lesyng B, editor. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2002 Oct 14 [cited 2022 Jan 30]. Available from: https://stke.sciencemag.org/topics/transporters.
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OMIM Entry – #300243 – Christianson Syndrome; CS. [Internet]. McEntagart M, Ropers HH. Johns Hopkins University; 2002 Oct 29 [cited 2022 Jan 30]. Available from: https://omim.org/entry/300243.
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SLC9A6 gene – PubMed – NCBI. [Internet]. Bethesda (MD): National Center for Biotechnology Information; [cited 2022 Jan 30]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=SLC9A6+gene.
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Genetic Testing Registry – SLC9A6 gene. Bethesda (MD): National Library of Medicine (US); 2013 [cited 2022 Jan 30]. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/10479/.