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The SLC12A1 gene, also known as the solute carrier family 12 member 1 gene, is a gene that codes for the sodium-potassium-chloride cotransporter protein. This protein plays a crucial role in maintaining the balance of sodium, potassium, and chloride ions in the bloodstream.

Changes or mutations in the SLC12A1 gene can lead to various disorders and conditions. One such condition is Bartter syndrome, a rare inherited disorder that affects the kidneys’ ability to reabsorb sodium and chloride ions from the urine. This can result in excessive amounts of these ions being lost in the urine, leading to an imbalance of electrolytes in the body.

Individuals with mutations in the SLC12A1 gene may experience symptoms such as frequent urination, dehydration, muscle weakness, and fatigue. Diagnosis of SLC12A1 gene mutations can be done through genetic testing, which can detect specific changes in the gene. This genetic information can be useful for confirming a diagnosis and providing additional information for treatment and counseling.

The SLC12A1 gene is listed in various scientific resources and databases, such as the OMIM (Online Mendelian Inheritance in Man) catalog and the PubMed database. These resources provide references to articles, studies, and other related information on the gene and its associated disorders.

Testing for SLC12A1 gene mutations may be available through specialized laboratories and genetic testing companies. These tests can help identify specific changes in the gene and guide treatment decisions for individuals with related conditions.

The SLC12A1 gene and its associated disorders are a focus of research and study in the scientific community. Understanding the function and changes in this gene can provide insights into the normal functioning of the kidneys, as well as the development of new diagnostic tests and treatments for related diseases.

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Genetic changes in the SLC12A1 gene can cause various health conditions and disorders. These changes can lead to the development of a syndrome known as SLC12A1-related disorders. This syndrome is characterized by abnormal levels of sodium, potassium, and chloride ions in the bloodstream.

Health conditions related to genetic changes in the SLC12A1 gene include:

  • Salt-losing tubulopathy: This condition is caused by mutations in the SLC12A1 gene, which affects the function of the Na-K-2Cl cotransporter protein. It leads to excessive loss of sodium, potassium, and chloride ions in the urine.
  • Rare genetic diseases: Genetic changes in the SLC12A1 gene can also cause other rare genetic diseases, such as Bartter syndrome and Gitelman syndrome. These diseases are characterized by imbalances in electrolyte levels and can affect the kidneys, leading to symptoms such as abnormal blood pressure and muscle weakness.

To diagnose health conditions related to genetic changes in the SLC12A1 gene, genetic testing can be performed. This involves analyzing DNA samples to detect any changes or variants in the gene. There are several resources and databases available for genetic testing, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide scientific articles, references, and additional information on genetic changes and associated health conditions.

Furthermore, there are registries and catalogs that list specific tests and names for genetic changes and related health conditions. These resources can help healthcare professionals and individuals find relevant information and resources for testing and diagnosis.

In conclusion, genetic changes in the SLC12A1 gene can lead to various health conditions and disorders. Understanding these changes and their effects on the normal functioning of the gene and related proteins is crucial for accurate diagnosis and management of affected individuals.

Bartter syndrome

Bartter syndrome is a rare genetic disorder that affects the normal function of the SLC12A1 gene. This gene encodes a protein called the sodium-potassium-chloride (Na-K-2Cl) cotransporter, which plays a crucial role in ion transport in the kidneys. Mutations or changes in this gene can lead to a malfunctioning or absent Na-K-2Cl cotransporter, causing problems with the reabsorption of sodium, potassium, and chloride ions in the kidneys.

The symptoms of Bartter syndrome can vary depending on the specific genetic variant, but often include excessive urine production (polyuria), excessive thirst (polydipsia), electrolyte imbalances, and an imbalance of acids in the bloodstream. Additional tests such as blood and urine tests can be performed to diagnose Bartter syndrome and determine the specific changes in the SLC12A1 gene.

See also  Huntington disease-like syndrome

There are several types of Bartter syndrome, each caused by different genetic mutations. The specific gene changes associated with each type have been cataloged in genetic databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide information on the related genes, disorders, variant names, and references to scientific articles.

Although Bartter syndrome is a rare condition, it is important for people with symptoms or a family history of the disorder to undergo genetic testing to confirm the diagnosis. This testing can provide important information for healthcare providers to manage the condition and ensure optimal health for individuals affected by Bartter syndrome.

Other disorders

SLC12A1 gene disorder is a rare genetic condition that affects the SLC12A1 gene, which codes for a protein involved in the transport of sodium and chloride ions in the kidney. Mutations in this gene can cause a variety of disorders, including Bartter syndrome and Gitelman syndrome.

Bartter syndrome is a group of rare genetic disorders that affect the kidneys’ ability to reabsorb salt and maintain a proper balance of fluids in the body. It is caused by mutations in genes related to the na-k-2cl cotransporter protein, including the SLC12A1 gene. Symptoms of Bartter syndrome can vary, but can include excessive thirst, frequent urination, and electrolyte imbalances.

Gitelman syndrome is another rare genetic disorder that affects the kidneys’ ability to reabsorb salt and regulate electrolyte levels. It is caused by mutations in the SLC12A3 gene, which also plays a role in the transport of sodium and chloride ions. Symptoms of Gitelman syndrome can include muscle weakness, low blood pressure, and irregular heartbeat.

For additional information on these and other related disorders, the Genetic and Rare Diseases Information Center (GARD) provides resources and references to scientific articles, registries, and databases. The Online Mendelian Inheritance in Man (OMIM) database also provides detailed information on the SLC12A1 gene and its associated disorders.

Genetic testing can be done to identify mutations in the SLC12A1 gene and confirm a diagnosis of Bartter syndrome or Gitelman syndrome. Blood tests can also be used to check for electrolyte imbalances and assess kidney function.

Resources for further information and testing:
Resource Website
Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/
Online Mendelian Inheritance in Man (OMIM) https://www.omim.org/
PubMed https://pubmed.ncbi.nlm.nih.gov/
Simon’s Foundation Autism Research Initiative https://www.sfari.org/

Please note that the information on these websites and resources is provided for educational purposes and should not substitute professional medical advice. It is always recommended to consult with a healthcare professional for accurate diagnosis and treatment options.

Other Names for This Gene

The SLC12A1 gene is also known by other names, including:

  • Bartter Syndrome, Type 1
  • Bartter Syndrome, Type I
  • Bartter Syndrome, Neonatal, With Sensorineural Deafness
  • BSND1-Related Bartter Syndrome
  • Na-K-2Cl Cotransporter
  • Na-K-2Cl Symporter
  • NKCC2

These names are used to describe various disorders and conditions related to changes in the SLC12A1 gene. It is important to note that these names do not represent separate genes or proteins, but rather different facets of the same gene and its associated conditions.

Individuals who have rare variants or changes in the SLC12A1 gene may exhibit symptoms of Bartter Syndrome, a group of related genetic disorders characterized by abnormalities in the bloodstream’s sodium, potassium, and chloride ions. Testing of the SLC12A1 gene can be performed to diagnose these conditions and to identify any additional related genes that may be involved.

Additional information and resources about the SLC12A1 gene can be found in scientific databases such as PubMed, OMIM, and scientific articles published in journals or books. These resources provide valuable references and registry information for people interested in learning more about this gene and its role in normal protein function and related conditions.

Additional Information Resources

  • PubMed: A database of scientific articles related to rare diseases, syndromes, and disorders. It includes information on changes in the SLC12A1 gene and its protein.
  • OMIM: An online catalog of human genes and genetic disorders. It provides additional information on the SLC12A1 gene and its associated conditions.
  • PubMed Central: A repository of full-text articles on various health topics. It contains articles related to rare diseases, including those involving the SLC12A1 gene.
  • The Simon Cotransporter: A database listing the names of proteins involved in the transport of sodium, potassium, and chloride ions. It includes information on the SLC12A1 protein.
  • Genetic Testing Registry: A resource providing information on genetic tests. It can be used to find testing laboratories that offer tests for the SLC12A1 gene.
  • Genetics Home Reference: A website that provides consumer-friendly information about genetic conditions. It includes information on rare diseases that result from changes in the SLC12A1 gene.
  • Online Mendelian Inheritance in Man (OMIM): A comprehensive database of genetic disorders. It provides detailed information on the SLC12A1 gene and its associated conditions.
  • GeneTests: A resource providing information on genetic tests and related laboratories. It lists testing laboratories that offer tests for the SLC12A1 gene.
  • Protein Data Bank (PDB): A repository of information on the 3D structures of proteins. It contains information on the structure of the SLC12A1 protein.
  • References in PubMed: A feature in PubMed that lists references used in scientific articles. It can provide additional information on the SLC12A1 gene and its related research.
See also  CACNA1F gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive online database that provides information about genetic tests. It is a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic disorders and related genes.

The GTR lists various tests related to the SLC12A1 gene, which is responsible for encoding a protein called sodium-potassium-chloride cotransporter. This protein plays a crucial role in the reabsorption of ions in the kidney, maintaining the balance of sodium, potassium, and chloride ions in the bloodstream.

In the GTR, you can find tests that identify changes or variants in the SLC12A1 gene. These tests can determine whether an individual has a normal or altered version of the gene, providing valuable information for diagnosing and managing related conditions.

Some tests listed in the GTR are specific to the SLC12A1 gene, while others may involve multiple genes associated with similar conditions. For example, the GTR includes tests for Bartter syndrome, a rare disorder characterized by kidney dysfunction and electrolyte imbalances. These tests may analyze multiple genes, including SLC12A1, to identify gene variants that contribute to the syndrome.

The information provided in the GTR is based on scientific articles, databases, and other reliable sources. Each test listed in the GTR includes details such as the name of the test, the associated conditions or diseases, and additional information about the test itself. It also provides references to scientific articles and databases, such as PubMed and Online Mendelian Inheritance in Man (OMIM), where you can find more detailed information about the test and related genes.

Through the GTR, people can access important information about genetic testing for SLC12A1 gene-related disorders. This can help individuals and healthcare professionals make informed decisions about testing, diagnosis, and treatment. The GTR serves as a valuable resource for genetic testing information and promotes the understanding of genetic disorders and their associated genes.

Key information provided in the GTR:
Test name The name of the genetic test
Associated conditions or diseases The disorders or diseases related to the SLC12A1 gene
Additional information Additional details about the test, such as testing methodology and interpretation
References Scientific articles, databases, and other reliable sources for further reading

Scientific Articles on PubMed

PubMed is a widely used catalog of scientific articles in the field of health and related areas. It provides a valuable resource for people seeking information on various topics, including genetic disorders and rare diseases.

The SLC12A1 gene, also known as the sodium-potassium-chloride cotransporter 2 (NKCC2) gene, is listed in the PubMed database. This gene is associated with a rare genetic disorder called Bartter syndrome, which affects the body’s ability to regulate sodium and other ions in the bloodstream.

Scientists have conducted numerous studies on the SLC12A1 gene and related conditions. These articles provide important information on the function of the gene, the proteins it produces, and the changes or variants that can lead to disorders such as Bartter syndrome.

In addition to articles specifically focused on the SLC12A1 gene, PubMed also includes articles on other genes involved in sodium and ion regulation, as well as related disorders and diseases. Researchers and healthcare professionals can use this information to better understand these conditions and develop testing protocols for individuals with suspected genetic changes.

PubMed provides a wealth of resources for those interested in the SLC12A1 gene and related topics. It allows users to access scientific articles, read abstracts, and find references to additional sources of information. By exploring the PubMed database, researchers can stay up to date on the latest findings in this field and contribute to the scientific knowledge surrounding the SLC12A1 gene and its role in health and disease.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases providing comprehensive information on genetic variants, disorders, and related conditions. It serves as a valuable resource for scientists, healthcare professionals, and individuals interested in genetic testing and research.

See also  LIPA gene

The catalog includes a wide range of genes and diseases, with a particular focus on rare genetic disorders. One of the genes listed in the catalog is SLC12A1, which encodes a sodium-potassium-chloride cotransporter protein. Changes in this gene have been associated with Bartter syndrome, a rare genetic disorder that affects the kidney’s ability to reabsorb sodium, potassium, and chloride ions.

OMIM provides a detailed registry of genetic testing resources, including laboratories and clinics that offer testing for genes associated with various diseases. The catalog also includes references to scientific articles, PubMed links, and additional information on genes and related conditions. This ensures that users have access to up-to-date information on genetic testing and diagnosis.

In addition to the SLC12A1 gene, the catalog lists many other genes associated with a wide range of diseases and health conditions. Users can browse the catalog using the provided search function or navigate through the organized gene and disease categories. OMIM also offers resources on genetic counseling, genetic testing technologies, and other valuable information for individuals and families affected by genetic disorders.

Overall, the OMIM catalog serves as a comprehensive and reliable resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases. The catalog’s extensive database, easy navigation, and up-to-date information make it an essential tool in the field of genetics.

Gene and Variant Databases

The SLC12A1 gene is associated with a rare genetic disorder called Bartter syndrome. This syndrome affects the reabsorption of sodium and chloride ions in the kidneys, leading to abnormal levels of these ions in the blood.

For people with Bartter syndrome, normal health requires the proper functioning of the Na-K-2Cl cotransporter protein encoded by the SLC12A1 gene. Changes in this gene can result in the malfunctioning of the protein, leading to the symptoms of Bartter syndrome.

To provide information and resources for testing and diagnosis of SLC12A1 gene-related disorders, several gene and variant databases are available. These databases list information about the SLC12A1 gene, its variants, and related conditions.

Databases Listing SLC12A1 Gene and Variant Information:

  • OMIM: Online Mendelian Inheritance in Man provides comprehensive information about genes and genetic disorders. It includes references to scientific articles, genetic testing resources, and additional resources for SLC12A1 gene-related disorders.
  • PubMed: A database of biomedical literature with a large collection of scientific articles. Searching for “SLC12A1 gene” or related terms in PubMed can provide access to research papers and studies on this gene and its variants.
  • Catalog of Human Genes and Genetic Disorders: This database provides information about genes, genetic disorders, and their associated variants. It includes a list of genes and variants related to Bartter syndrome.
  • Simon’s Variant Database: A comprehensive database of genetic variants associated with rare diseases. It includes information on the SLC12A1 gene and its variants, as well as related conditions.

These databases can be valuable resources for healthcare professionals, researchers, and individuals seeking information about the SLC12A1 gene and its variants. They provide essential information for genetic testing, diagnosis, and treatment of Bartter syndrome and related conditions.

References

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