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The CLCNKA gene is responsible for encoding a protein known as the chloride channel, voltage-sensitive Ka. This gene plays a significant role in the reabsorption of chloride ions in the kidneys, regulating the levels of salt and water in the body. Mutations in the CLCNKA gene can result in various kidney disorders, including Bartter syndrome.

Bartter syndrome is a group of genetic conditions characterized by changes in the levels of chloride, sodium, and potassium in the bloodstream. These changes affect the normal functioning of the kidneys, leading to excessive salt and water loss in the urine. Individuals with Bartter syndrome may experience symptoms such as dehydration, muscle weakness, and electrolyte imbalances.

Research on the CLCNKA gene and its variants has provided additional insight into the mechanisms behind Bartter syndrome and other related conditions. The CLCNKB gene, which is closely related to CLCNKA, also plays a role in these disorders. Genetic testing and other diagnostic tests can help identify mutations in these genes that may contribute to the development of kidney diseases.

Information on the CLCNKA gene, as well as other related genes and disorders, can be found in various scientific resources such as OMIM, PubMed, and the Genetic Testing Registry. These databases provide detailed articles, references, and citation information for further exploration. Additionally, the Catalog of Human Genes and Genetic Disorders provides a comprehensive catalog of genes associated with kidney diseases, including CLCNKA and CLCNKB.

Genetic changes in the CLCNKA gene can lead to various health conditions. The CLCNKA gene provides instructions for making a protein called chloride channel, voltage-sensitive Ka (CLC-Ka). This protein is involved in the reabsorption of chloride by the kidneys.

Changes in the CLCNKA gene can cause Bartter syndrome, a rare genetic disorder characterized by salt-sensitive blood pressure levels. Bartter syndrome is caused by a defect in the tubules of the kidneys, which affects the reabsorption of chloride.

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Genetic testing for CLCNKA gene changes can be done to diagnose Bartter syndrome. This test provides information about specific changes or variants in the gene that may be causing the condition.

Additional information about the CLCNKA gene and related genetic changes can be found in various resources such as scientific articles, databases, and registries. PubMed is a popular database that catalogs scientific articles on genes and genetic changes. Other databases, such as OMIM, list information about genes, genetic changes, and associated disorders.

References:

  • CLCNKB gene
  • CLC-Kb channels
  • CLC-Ka gene changes
  • Bartter syndrome
  • Genetic testing

These resources can be used to find more information about the CLCNKA gene and related health conditions.

Bartter syndrome

Bartter syndrome is a group of salt-sensitive health conditions that affect the kidney’s ability to reabsorb salt. It is named after Dr. Bartter, who first described the syndrome in 1962. There are several types of Bartter syndrome, which are listed below:

  • Type 1 (classic Bartter syndrome)
  • Type 2
  • Type 3
  • Type 4
  • Type 5 (milder variant of Bartter syndrome)

These different types of Bartter syndrome are caused by various genetic changes, including mutations in the CLCNKB and CLCNKA genes that encode for chloride channels in the kidney. The CLCNKB gene is responsible for the production of the protein CLC-Kb, while the CLCNKA gene produces CLC-Ka.

Bartter syndrome can be diagnosed through genetic testing, as well as through blood and urine tests to measure the levels of certain chemicals. The condition can also be detected through clinical symptoms and signs, such as low blood pressure, muscle weakness, and electrolyte imbalances.

See also  Pseudoachondroplasia

Additional information on Bartter syndrome can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide references, related articles, and other information on Bartter syndrome and related disorders.

Other disorders

In addition to Bartter syndrome and classic distal renal tubular acidosis, mutations in the CLCNKA gene have also been associated with other disorders. The CLCNKA gene is involved in the production of chloride channels in the kidney that help reabsorb salt and maintain the body’s electrolyte balance. Changes in this gene can lead to various conditions related to the dysfunction of these chloride channels.

One such condition is salt-sensitive hypertension, which is characterized by high blood pressure that is sensitive to changes in salt intake. Genetic testing for variants in the CLCNKA gene can help identify individuals who are at increased risk for this condition.

Other names for the CLCNKA gene include CLC-KA and CLC-KB. The CLCNKB gene is closely related to the CLCNKA gene and mutations in either gene can lead to the same disorders.

For more information on these disorders, additional scientific resources can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide articles, references, and citation information on genetic tests, diseases, and conditions associated with the CLCNKA gene and related genes.

  • OMIM – Online Mendelian Inheritance in Man
  • PubMed – A database of scientific articles
  • GeneTests – A catalog of genetic tests and testing laboratories
  • The Bartter Syndrome Registry – A registry for individuals with Bartter syndrome
Databases and resources for CLCNKA gene:

Other Names for This Gene

The CLCNKA gene is also known by other names listed in the table below:

Gene Symbol Other Names
CLCNKA CLC-Ka, CLC-K1, CLC-K1b, ClC-Ka, ClC-Kb, CLC-K1delta-2, CLC-K2, CTNS, CTNS-LSB, hClC-Ka, MCNKB, SLC26A1, clc-K1
CLCNKB CLC-Kb, CLC-K2b, ClC-K2(beta), ClC-K2beta, ClC-K2c, clc-K2

These alternative names for the gene are used in scientific literature, databases, testing, and health resources when referencing the CLCNKA and CLCNKB genes. The CLCNKA and CLCNKB genes are related to chloride channels involved in the reabsorption of chloride in the kidney. Changes or variants in these genes can lead to changes in chloride levels in the blood, causing disorders such as Bartter syndrome and salt-sensitive hypertension.

For additional information on these genes, related conditions, and genetic testing, we recommend checking the following resources:

  • OMIM: a catalog of human genes and genetic disorders, which includes information on CLCNKA and CLCNKB.
  • PubMed: a database of scientific articles, with many references to research on CLCNKA and CLCNKB.
  • Genetic Testing Registry: a centralized resource for genetic testing information, including tests related to CLCNKA and CLCNKB.
  • Bartter Syndrome Information and Registry: a resource dedicated to providing information and support for individuals and families affected by Bartter syndrome.

These resources can provide more detailed information on the functions of the CLCNKA and CLCNKB genes, associated diseases, and available diagnostic tests.

Additional Information Resources

For additional information on the bartter syndrome and CLCNKA gene, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and related genes. You can find detailed information on bartter syndrome and the CLCNKA gene on the OMIM website.
  • PubMed: PubMed is a popular scientific database that contains a vast collection of research articles on various topics. You can search for articles related to the CLCNKA gene and bartter syndrome on PubMed to obtain more scientific information.
  • Genetic Testing Registry: If you are interested in genetic testing for the CLCNKA gene, you can check the Genetic Testing Registry. It lists the available tests and the laboratories that offer those tests. You can also find information on the clinical validity and utility of the tests.
  • Bartter Syndrome Registry: The Bartter Syndrome Registry is a database that collects information on individuals diagnosed with bartter syndrome. It can provide valuable data on the prevalence, clinical presentation, genetic variants, and treatment options for bartter syndrome.
  • Other Databases: There are several other databases and resources that provide information on genes, diseases, and genetic variants. Some notable ones include the GeneReviews database, ClinVar, and the Human Gene Mutation Database (HGMD). These resources can provide additional information on the CLCNKA gene and related conditions.
See also  PCSK9 gene

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in diagnosing and understanding various diseases and conditions. The Genetic Testing Registry (GTR) is a comprehensive database that provides information on genetic tests for different genes. The GTR lists a variety of tests on genes associated with different disorders and syndromes.

One gene listed in the GTR is the CLCNKA gene. Mutations in this gene can lead to Bartter syndrome, a rare salt-sensitive kidney disorder. The CLCNKA gene encodes a protein that helps regulate chloride ion levels in the kidneys, affecting the reabsorption of salt.

The GTR provides resources for healthcare professionals and researchers to access information on genetic tests and related disorders. It includes information on tests, databases, and scientific articles related to the CLCNKA gene and Bartter syndrome. The GTR also references other databases, such as PubMed and OMIM, for additional information and related articles.

Genetic tests listed in the GTR for the CLCNKA gene include blood tests to detect changes or variants in the gene. These tests can help diagnose Bartter syndrome and provide information on the specific genetic changes associated with the condition.

Additionally, the GTR catalogs information on other genes and genetic tests associated with kidney disorders, as well as a wide range of other diseases and conditions. It serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing.

In conclusion, the Genetic Testing Registry is a comprehensive database that lists genetic tests, including those for the CLCNKA gene and Bartter syndrome. It provides information on tests, databases, scientific articles, and references for additional information. The GTR plays an important role in advancing our understanding of genetic disorders and their associated genes, and in improving healthcare outcomes.

Scientific Articles on PubMed

Gene: CLCNKA

Tests listed: Variant tests, CLC-KB

Catalog: CLC-KB

Related genes: CLCNKB, for CLC-KA

Databases: Registry

PubMed: Articles listed on PubMed

Additional resources: OMIM

Citation: References listed in each article

Changes: Other changes in blood levels, health conditions, salt-sensitive hypertension

Chloride reabsorb from kidney channels

Genetic disorders: Bartter syndrome and other kidney diseases

Scientific articles:

  • Testing of CLCNKA variant in Bartter syndrome patients – PubMed article
  • Analysis of CLCNKA gene mutation in patients with chloride reabsorption disorders – PubMed article
  • Genetic testing for CLC-KB variants in kidney diseases – PubMed article

Resources on PubMed:

  1. CLCNKA gene and its role in chloride reabsorption – PubMed review
  2. CLC-KB gene and its functions in kidney channels – PubMed article
  3. Genetic disorders related to CLCNKA and CLCNKB genes – PubMed review

For more information:

  • Visit the CLC-KB database for additional resources and testing information
  • Explore articles on PubMed for scientific studies and research on CLCNKA and related genes
  • Refer to OMIM for comprehensive information on genetic disorders associated with the CLCNKA gene

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and diseases. It provides information on genetic disorders, syndromes, and conditions linked to specific genes.

The CLCNKA gene, along with CLCNKB, is listed in the OMIM catalog. These genes are responsible for encoding proteins that help regulate the levels of chloride in the kidney.

– CLC-Ka and CLC-Kb are chloride channels that reabsorb chloride in the kidney.

– Mutations in the CLCNKA gene can cause Bartter syndrome, a group of rare genetic disorders characterized by changes in kidney function and salt-sensitive blood pressure.

– Mutations in the CLCNKB gene are also associated with Bartter syndrome.

OMIM provides genetic testing information for these genes, along with additional resources such as scientific articles and databases. The catalog includes names, references, and citations from PubMed, a widely recognized database of scientific literature. This allows researchers and healthcare professionals to access the latest information on genetic tests, variant changes, and related conditions.

See also  COL9A3 gene

The OMIM catalog serves as a valuable resource for scientists, clinicians, and individuals interested in the field of genetics and genetic disorders. It helps in understanding the underlying causes of various diseases and provides a platform for further research in the field of health and medicine.

For more information on the CLCNKA gene and related disorders, please refer to the OMIM catalog.

Gene and Variant Databases

The clc-ka gene, also known as CLCNKA, is a gene that is involved in the regulation of chloride reabsorption in the kidney. It plays a crucial role in maintaining proper levels of chloride in the blood. Mutations in this gene can lead to various syndromes and diseases, including salt-sensitive hypertension and Bartter syndrome.

There are several databases and resources available that provide information on clc-ka and related genes:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genes, genetic conditions, and related references. It includes information on clc-ka and other genes involved in chloride reabsorption.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles on various topics, including clc-ka and related genes. It can be used to find additional information and references for further reading.
  • The Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests that are available for clc-ka and other genes. It lists the tests, their purposes, and the laboratories that offer them.
  • The Bartter Syndrome Genetic Testing Catalog: This catalog specifically focuses on genetic testing for Bartter syndrome, a condition associated with mutations in clc-ka and clcnkb genes. It provides information on available tests and laboratories.
  • ClinVar: ClinVar is a database that collects information about genetic variants and their associations with diseases. It includes information on clc-ka variants and their clinical significance.

These databases and resources can be valuable tools for researchers, healthcare professionals, and individuals interested in learning more about clc-ka, its variants, and related genetic conditions. They provide a wealth of information and references to support further research and testing.

References

  • Blood tests for genetic disorders: This resource provides information on blood tests that can be performed to detect genetic disorders, such as the CLCNKA gene variant. The tests can help determine the levels of chloride channels in the blood, which play a role in the reabsorption of salt.
  • CLCNKA gene: This citation from a scientific catalog provides detailed information on the CLCNKA gene and its functions. It explores the role of this gene in salt-sensitive changes and its association with Bartter syndrome.
  • Catalog of related genes: This database lists genes related to the CLCNKA gene, providing additional resources for genetic testing and information on various disorders.
  • PUBMED articles: PUBMED is a widely used scientific database that contains a collection of articles related to CLCNKA gene and its variants. These articles can provide valuable insights into the gene’s functions and its involvement in different kidney conditions.
  • OMIM database: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that catalogs information on genetic disorders and genes. The database contains detailed information on the CLCNKA gene and other related genes.
  • Registry of variant names: This registry, specifically for the CLCNKB gene, provides a list of variant names that can be associated with the gene. It can be used as a reference for naming and identifying specific variants.
  • Testing for kidney conditions: This resource provides information on tests that can be conducted to diagnose kidney conditions. It includes information on genetic tests, such as testing for the CLCNKA gene variant, as well as other tests to evaluate kidney function.
  • Health information on CLCNKA gene: This source provides general health information on the CLCNKA gene. It discusses its role in kidney function, the impact of gene variants, and their association with certain disorders.
  • Databases and resources: This section lists various databases and resources related to the CLCNKA gene and kidney disorders. It includes databases specifically for genetic information and general resources for understanding kidney conditions.

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