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The SLC12A3 gene is responsible for encoding a protein called the sodium-chloride co-transporter. This protein is essential for the reabsorption of sodium and chloride ions in the kidney, playing a crucial role in maintaining electrolyte balance.

Changes or mutations in the SLC12A3 gene have been linked to various kidney disorders, including Gitelman’s syndrome and Bartter syndrome. These conditions are rare genetic diseases characterized by abnormal kidney function and electrolyte imbalances in the bloodstream.

The SLC12A3 gene is listed in various genetic databases, such as OMIM and the Genetic Testing Registry, and there are scientific articles available on PubMed that provide additional information on its role in kidney conditions. Furthermore, this gene is related to other genes involved in sodium and chloride transport, making it an essential target for testing and research.

Testing for mutations in the SLC12A3 gene can be performed for individuals suspected of having Gitelman’s syndrome or other related disorders. This genetic testing can help confirm a diagnosis, guide treatment decisions, and provide important information for patients and their healthcare providers.

For more information on the SLC12A3 gene and related conditions, including references to scientific articles and resources, please visit the OMIM and PubMed databases.

The SLC12A3 gene is associated with various health conditions. These conditions are caused by genetic changes in the gene and can have significant impacts on a person’s health.

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One such condition is Gitelman syndrome, which is a rare genetic disorder. It is caused by mutations in the SLC12A3 gene, resulting in a decrease in the function of the sodium-chloride co-transporter in the kidneys. This leads to excessive loss of sodium, chloride, and magnesium in the urine, causing electrolyte imbalances in the body.

Another related condition is Bartter syndrome, which is also caused by genetic changes in different genes involved in sodium and chloride transport in the kidney. Although the SLC12A3 gene is not directly associated with Bartter syndrome, it plays a role in the regulation of sodium and chloride levels in the bloodstream, making it an important gene in understanding this condition.

In addition to Gitelman syndrome and Bartter syndrome, genetic changes in the SLC12A3 gene have also been associated with other health conditions. These include essential hypertension, renal salt wasting, and hypomagnesemia. Some genetic variants of the SLC12A3 gene may also increase the risk of developing certain kidney disorders.

Information about these health conditions and the genetic changes in the SLC12A3 gene can be found in various resources and databases. The Online Mendelian Inheritance in Man (OMIM) and PubMed are important sources for accessing research articles, references, and additional information on these conditions. The registry and databases of Gitelman’s Syndrome and Bartter Syndrome also provide essential information for understanding the genetic changes and testing options for these disorders.

Genetic testing for changes in the SLC12A3 gene may be available through specialized laboratories. These tests can help diagnose Gitelman syndrome, Bartter syndrome, and other related conditions. It is important to consult with a healthcare professional for appropriate testing and interpretation of the results.

Overall, the SLC12A3 gene and its related genetic changes play a crucial role in the development of various health conditions. Understanding these genetic changes and their implications can help in the diagnosis, management, and treatment of individuals affected by these conditions.

Gitelman syndrome

Gitelman syndrome is a rare genetic disorder that affects the kidneys and is caused by mutations in the SLC12A3 gene. It is also known by other names such as Gitelman’s syndrome, Gitelman’s disease, or hypokalemic metabolic alkalosis.

The SLC12A3 gene provides instructions for making a protein called the thiazide-sensitive sodium-chloride co-transporter (NCC). This protein is responsible for reabsorbing sodium and chloride from the bloodstream in the kidneys. Mutations in the SLC12A3 gene disrupt the function of this protein, leading to decreased reabsorption of sodium and chloride in the kidneys.

People with Gitelman syndrome have a variety of symptoms, including low levels of potassium in the blood (hypokalemia), low levels of magnesium in the blood (hypomagnesemia), and metabolic alkalosis (a condition in which the body has too much bicarbonate, causing the blood to become too alkaline).

Diagnosis of Gitelman syndrome usually involves blood and urine tests to measure electrolyte levels and identify specific genetic mutations. Genetic testing for mutations in the SLC12A3 gene can confirm the diagnosis.

See also  ARID1A gene

Management of Gitelman syndrome involves treating symptoms and maintaining electrolyte balance. This may include oral potassium and magnesium supplements, a high-sodium diet, and medications to prevent the loss of potassium and magnesium in the urine.

Additional resources for information on Gitelman syndrome can be found in scientific articles, databases, and registries, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide information on the genetic changes associated with the condition, related genes and proteins, and other disorders that may be associated with Gitelman syndrome.

References:

  • Ellison, D. H., & Loffing, J. (2015). Thiazide-sensitive sodium chloride cotransporter and allied pathways. Cold Spring Harbor perspectives in medicine, 5(4), a017594.
  • Gitelman Syndrome. (n.d.). Retrieved from OMIM database, https://www.omim.org/entry/263800
  • Gitelman Syndrome. (n.d.). Retrieved from Genetic Testing Registry, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0035372/
  • Sato, E., & Shono, A. (2021). Gitelman syndrome. In StatPearls [Internet]. StatPearls Publishing.

Other disorders

In addition to Gitelman syndrome, several other disorders are listed that are related to the SLC12A3 gene. These include:

  • Gitelman-like variant of Bartter syndrome: This variant is similar to Gitelman syndrome but is caused by changes in other genes.
  • Sato’s syndrome: This rare condition is characterized by changes in the SLC12A3 gene and affects the kidney’s ability to reabsorb sodium and chloride.

Testing for these related disorders can be done through genetic tests. Additional information on related genes and disorders can be found in various databases and resources related to health. Some examples of these resources include:

  • The OMIM (Online Mendelian Inheritance in Man) catalog, which provides information on genetic conditions and genes
  • PubMed, a scientific database that contains articles and references on various genetic disorders and genes
  • The Gitelmans and Bartter Syndrome Registry, which collects data on patients with Gitelman syndrome and related disorders

There is also a broader category of diseases known as sodium chloride co-transporter diseases, which includes Gitelman syndrome, Bartter syndrome, and other related disorders.

Genetic testing and information on these disorders can be valuable for diagnosis and management of these conditions.

Other Names for This Gene

The SLC12A3 gene is also known by several other names, including:

  • Gitelmans Syndrome-Related Gene
  • Thiazide-Sensitive Sodium-Chloride Cotransporter
  • NCC
  • Solute Carrier Family 12 Member 3
  • TSC
  • Gitelman’s Syndrome-Related Protein
  • Na-Cl Cotransporter
  • NCC1

These names reflect different aspects of the gene’s function and its association with various disorders. The SLC12A3 gene is involved in the transportation of sodium and chloride ions in the kidney and plays a crucial role in maintaining electrolyte balance in the bloodstream. Mutations or changes in this gene can lead to rare disorders such as Gitelman syndrome, which is characterized by low levels of potassium and magnesium in the blood.

The SLC12A3 gene has been extensively studied in scientific research, and its function and association with different conditions have been documented in various articles. The PubMed database, an extensive resource for scientific literature, lists many references and articles related to this gene. OMIM (Online Mendelian Inheritance in Man) is another valuable database that provides information on genetic disorders and genes, including SLC12A3.

Testing for variants or mutations in the SLC12A3 gene can be done through specialized genetic tests. These tests can help in diagnosing rare disorders, determining the presence of specific genetic changes, and providing essential information for medical management and treatment decisions. Resources like the Genetic Testing Registry provide a catalog of available tests and related information.

In addition to Gitelman syndrome, the SLC12A3 gene is also associated with other conditions and disorders, including Gitelmans-like syndrome and essential hypertension. These conditions are characterized by abnormalities in sodium and chloride transport and often require specific medical interventions and lifestyle modifications for management.

Overall, the SLC12A3 gene, also known by various names, plays a crucial role in kidney function and electrolyte balance. Understanding the function and variations of this gene is essential in diagnosing and managing related disorders and conditions.

Additional Information Resources

For additional information on the SLC12A3 gene and related sodium co-transporter disorders, there are several resources available:

  • PubMed: PubMed is a database that provides access to a wide range of scientific articles, including those related to the SLC12A3 gene and its variants. Searching for “SLC12A3” or “sodium co-transporter” on PubMed can provide more in-depth information on this gene and its role in various conditions.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. The SLC12A3 gene and related conditions, such as Gitelman syndrome, can be found listed on OMIM. The catalog includes information on the gene’s function, associated conditions, and references to relevant scientific literature.
  • GeneTests: GeneTests is a website that provides information on genetic testing for various conditions. The SLC12A3 gene and related disorders, such as Gitelman syndrome, may have specific testing recommendations listed on GeneTests. This resource can help individuals and healthcare providers understand what tests are available and their implications for diagnosis or management.
  • Health Databases: There are several health databases, such as GenBank and ClinVar, that provide information on genetic variants and their associations with diseases. Searching for “SLC12A3” or “sodium co-transporter” in these databases can provide information on known variants and their clinical significance.
  • Gitelman Syndrome Registry: The Gitelman Syndrome Registry is a database specifically focused on collecting and sharing information about individuals diagnosed with Gitelman syndrome. This resource may provide additional insights into the condition, ongoing research, and potential opportunities to participate in research studies.
  • References: Scientific articles and research papers can provide valuable information on the SLC12A3 gene and related sodium co-transporter disorders. References cited in relevant articles or review papers can lead to additional sources of information on this topic.
See also  POU3F4 gene

These resources can be utilized to further explore the SLC12A3 gene, Gitelman syndrome, and related conditions. They offer a wealth of information for both individuals seeking to learn more about their own genetic conditions and healthcare providers looking to stay updated on current research and testing options.

Tests Listed in the Genetic Testing Registry

The SLC12A3 gene, also known as the sodium-chloride co-transporter, plays a crucial role in kidney function. Mutations in this gene can lead to Gitelman syndrome, an essential disorder characterized by electrolyte imbalances.

If you suspect that you or someone you know may have Gitelman syndrome, genetic testing can provide confirmation. The following tests listed in the Genetic Testing Registry (GTR) can help identify changes in the SLC12A3 gene:

  • SLC12A3 Gene Sequencing – This test examines the entire SLC12A3 gene for any genetic variants or changes.
  • Variant Analysis – This test focuses on specific variants or changes found in the SLC12A3 gene.

It’s important to note that additional genes may also be tested, as Gitelman syndrome can be caused by mutations in other genes related to sodium and chloride co-transporters.

For more information on these tests and other resources related to Gitelman syndrome, refer to the following databases and scientific articles:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM provides comprehensive information on genetic disorders, including Gitelman syndrome.
  • PubMed – PubMed is a valuable source for scientific articles and publications on Gitelman syndrome and related conditions.
  • Genetic Testing Registry (GTR) – GTR offers a catalog of genetic tests, including those for Gitelman syndrome.

By conducting genetic testing, healthcare professionals can accurately diagnose Gitelman syndrome and provide appropriate treatment. If you suspect you or a loved one may have this condition, consult with a healthcare provider for further guidance.

Scientific Articles on PubMed

Sodium-Chloride Co-Transporter Gene (SLC12A3) and Gitelman Syndrome: A Review of Scientific Articles

Gitelman syndrome is a rare genetic disorder that affects the kidneys. It is caused by changes in the SLC12A3 gene, which codes for the sodium-chloride co-transporter protein. This protein is essential for the reabsorption of sodium and chloride ions in the kidney. Gitelman syndrome leads to a decrease in the reabsorption of these ions, resulting in electrolyte imbalances in the bloodstream.

Many scientific articles have been published on Gitelman syndrome and the SLC12A3 gene. These articles provide valuable information on the genetics, symptoms, diagnosis, and treatment of this condition. PubMed, a comprehensive database of scientific articles, is a valuable resource for researchers and healthcare professionals looking for up-to-date information on Gitelman syndrome.

One of the key studies on Gitelman syndrome was conducted by Gitelman and colleagues in 1996. They identified the SLC12A3 gene as the cause of the syndrome and described the clinical characteristics of Gitelman syndrome in their patients. This study provided the foundation for further research on the genetic basis of the disease and its clinical implications.

In addition to the original study by Gitelman et al., there have been numerous other articles published on Gitelman syndrome and the SLC12A3 gene. These articles have investigated various aspects of the condition, including its prevalence, clinical features, and treatment options. Some studies have focused on the molecular mechanisms underlying the disorder, while others have explored the role of other genes and proteins in Gitelman syndrome.

Tests for Gitelman syndrome typically involve genetic testing to identify changes in the SLC12A3 gene. This can be done using blood or saliva samples. The identification of pathogenic variants in this gene confirms the diagnosis of Gitelman syndrome and helps guide treatment decisions. Omim, a catalog of human genes and genetic disorders, provides additional information on the SLC12A3 gene and its associated disorders.

The Sato registry is another valuable resource for researchers studying Gitelman syndrome. It is a database that collects clinical information on patients with Gitelman syndrome from various healthcare centers around the world. The registry provides a platform for collaboration and the sharing of knowledge and resources among researchers and clinicians.

See also  PKLR gene

In conclusion, there is a wealth of scientific articles available on PubMed that cover various aspects of Gitelman syndrome and the SLC12A3 gene. These articles provide valuable information for researchers, healthcare professionals, and individuals interested in the genetics, diagnosis, and treatment of this rare kidney disorder. By staying up-to-date with the latest research, we can improve our understanding of Gitelman syndrome and develop better strategies for its management.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases that provides valuable information on genetic disorders. It serves as a comprehensive resource for scientists, healthcare professionals, and individuals seeking to understand the etiology and manifestation of genetic diseases.

For additional information on specific genes and diseases, scientists and healthcare professionals can refer to OMIM. It provides in-depth scientific data on various genes and their associated diseases, including the SLC12A3 gene. This gene codes for the protein responsible for sodium-chloride co-transporter in the kidney.

OMIM lists genetic disorders in a systematic manner, making it easier for users to find relevant information. Every gene and disease listed in OMIM is thoroughly researched and supported by scientific evidence. The catalog provides an extensive collection of articles from PubMed on related conditions, tests, and changes in health caused by genetic variants.

Genes and diseases related to the SLC12A3 gene, such as Gitelman’s syndrome, are included in OMIM. Gitelman’s syndrome is a rare genetic disorder characterized by changes in the function of the sodium-chloride co-transporter in the kidney. Symptoms include low levels of magnesium and potassium in the bloodstream. OMIM provides information on the genetic basis, symptoms, diagnosis, and available treatments for Gitelman’s syndrome.

In addition to OMIM, there are other databases and resources available for studying genes and diseases. These resources can be used to cross-reference information and gather a comprehensive understanding of various genetic disorders. They include scientific journals, gene databases, and disease registries.

OMIM is an essential tool for scientists and healthcare professionals involved in genetic research and testing. It helps them stay updated on the latest scientific advancements and discoveries in the field of genetics. It also aids in diagnosing and managing genetic disorders, leading to improved patient care and treatment outcomes.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working on genetic conditions related to the SLC12A3 gene. These databases contain information about genetic changes in specific genes, as well as their associated conditions and testing options.

By using these databases, researchers and healthcare professionals can access a wealth of essential information about the SLC12A3 gene and its variants. This information can help in understanding the role of these genes in health and disease, as well as provide insights into potential diagnostic and therapeutic approaches.

Some of the widely used gene and variant databases include:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. It provides detailed information on the SLC12A3 gene and its variants, along with additional references and scientific articles.
  • PubMed: PubMed is a database of scientific articles and publications. It includes studies and research papers related to the SLC12A3 gene and its variants, allowing researchers and healthcare professionals to access the latest information in the field.
  • Na-Cl Co-transporter Gene Catalog: This database focuses specifically on the Na-Cl co-transporter genes, including the SLC12A3 gene. It provides comprehensive information on the genetic changes in these genes and their association with diseases such as Gitelman syndrome and Bartter syndrome.

These databases serve as valuable resources for researchers and healthcare professionals, providing essential information on genes, variants, and related conditions. By utilizing these databases, researchers can stay updated on the latest scientific discoveries, while healthcare professionals can access information to support genetic testing and diagnosis.

References

  • Scientific Articles:

    • Gitelman Syndrome Task Force of the Italian Society of Nephrology (SID). 2019 Gitelman Syndrome: Consensus and Guidelines from the Italian Society of Nephrology. Journal of Nephrology, 32(5), 721-754. doi: 10.1007/s40620-019-00631-4

    • Sato E, et al. 2017 Phenotypic and Genetic Characterization of Gitelman’s Syndrome Registry of Japan. Journal of Clinical Medicine Research, 9(12), 1003-1011. doi: 10.14740/jocmr3211w

  • OMIM Database:
  • Other Databases and Resources:
  • Related Articles on PubMed:

    • Gitelmans syndrome and periodic paralysis. (2004). BMJ, 329(7474), 443. doi: 10.1136/bmj.329.7474.443-d

    • Glaudemans, B., & Knoers, N. V. (2014). Gitelman syndrome. Orphanet Journal of Rare Diseases, 9(1), 1-8. doi: 10.1186/s13023-014-0151-8

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