KCNJ1 gene – Austra Health

The KCNJ1 gene, also known as the inward rectifier potassium channel 1 gene, is responsible for the production of a protein that plays a crucial role in the function of the kidneys. Mutations in this gene can lead to various conditions and diseases affecting the body’s ability to regulate salt and fluid balance.

For people with disorders related to the KCNJ1 gene, testing can be done to identify any changes or variants in the gene. These tests can provide valuable information about an individual’s health and help healthcare professionals make accurate diagnoses and develop appropriate treatment plans.

The KCNJ1 gene is listed in various genetic databases and registries, including the Online Mendelian Inheritance in Man (OMIM) catalog. Additional references and scientific articles about this gene can be found on platforms such as PubMed. These resources provide further insight into the function of the KCNJ1 gene and its role in kidney-related disorders.

One specific disorder associated with mutations in the KCNJ1 gene is called Bartter syndrome type II. This rare genetic condition affects the kidneys and leads to the loss of salt and potassium through the urine, resulting in electrolyte imbalances and changes in blood pressure.

Further research on the KCNJ1 gene and related genes, such as the NKCC2 gene, is ongoing to better understand their function and potential implications for various diseases and conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the KCNJ1 gene can lead to several health conditions related to the kidneys and blood pressure.

One condition associated with genetic changes in the KCNJ1 gene is Bartter syndrome. Bartter syndrome is a rare genetic disorder that affects the kidney’s ability to reabsorb salt and maintain the body’s fluid and electrolyte balance. The genetic changes in the KCNJ1 gene result in a dysfunction of the Kir1.1 channel, a protein encoded by the gene, which is responsible for regulating salt reabsorption in the kidney.

People with Bartter syndrome may experience symptoms such as increased urination, dehydration, low blood pressure, and electrolyte imbalances. Genetic testing can be used to diagnose Bartter syndrome and identify the specific genetic changes in the KCNJ1 gene.

In addition to Bartter syndrome, genetic changes in the KCNJ1 gene have also been associated with other kidney disorders. One example is a condition called renal salt wasting with hyperkalemia, which is characterized by the loss of salt and an increase in potassium levels in the bloodstream. This condition is also caused by a dysfunction in the Kir1.1 channel.

To gather additional information on health conditions related to genetic changes in the KCNJ1 gene, scientific databases such as PubMed and OMIM can be used. These databases provide access to a wide range of articles, references, and resources on genetic variants, associated conditions, and related genes.

By searching these databases with keywords such as “KCNJ1 gene,” “Bartter syndrome,” and “renal salt wasting,” researchers and healthcare professionals can find relevant publications and studies that provide insights into the genetic changes and their impact on health.

In summary, genetic changes in the KCNJ1 gene can contribute to various health conditions related to the kidneys and blood pressure. Bartter syndrome and renal salt wasting are among the rare diseases linked to these genetic changes. Scientific databases like PubMed and OMIM offer valuable resources for further research and understanding of these conditions.

Bartter syndrome

Bartter syndrome is a rare genetic disorder that affects the function of the kidneys. It is caused by changes in the KCNJ1 gene, which codes for a protein called the inward rectifier potassium channel. This channel plays a crucial role in reabsorbing salt from the urine back into the bloodstream. When the KCNJ1 gene is altered, the kidneys are unable to properly reabsorb salt, leading to excessive salt loss in the urine and low blood pressure.

There are several subtypes of Bartter syndrome, classified based on the specific genes involved. In addition to the KCNJ1 gene, other genes such as SLC12A1 (which codes for the NKCC2 protein) have also been associated with the syndrome. These genetic changes can be detected through genetic testing.

Bartter syndrome is a rare condition, with an estimated incidence of 1 in 1 million people. Symptoms usually present in infancy or early childhood and can include excessive thirst and urination, growth failure, muscle weakness, and fatigue. The severity of symptoms can vary among affected individuals.

Diagnosis of Bartter syndrome involves a combination of clinical evaluation, blood and urine tests, and genetic testing. Elevated levels of certain electrolytes, such as potassium and chloride, in the urine can be indicative of the syndrome. Genetic testing can confirm the presence of specific genetic changes associated with Bartter syndrome.

Management of Bartter syndrome typically involves treating the symptoms and complications associated with the disorder. This may include medications to help restore electrolyte balance, such as potassium-sparing diuretics. Adequate fluid and salt intake may also be recommended to help maintain proper hydration and blood pressure.

For more information on Bartter syndrome, related genes, and scientific articles, several resources are available. The Online Mendelian Inheritance in Man (OMIM) catalog and GeneReviews provide comprehensive information on the genetic basis of the disorder. PubMed, a scientific research database, offers additional articles and references on Bartter syndrome and related conditions. The Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) also provide valuable resources and support for individuals with Bartter syndrome and their families.

Other disorders

The KCNJ1 gene is also associated with several other disorders:

Bartter syndrome: This is a group of rare genetic disorders that affect the kidney’s ability to reabsorb salt and maintain the right balance of fluids and electrolytes in the body. Mutations in the KCNJ1 gene can cause Bartter syndrome.
Rare variants: In addition to the KCNJ1 gene, there are several other genes that can also be associated with Bartter syndrome. These include the NKCC2 gene, which encodes a protein involved in salt reabsorption in the kidney.
Related conditions: Other genetic changes or disorders that affect the function of ion channels in the kidney can cause similar conditions to Bartter syndrome. These conditions include Gitelman syndrome and EAST syndrome.

For additional information on these disorders and the KCNJ1 gene, you may refer to scientific articles, resources, and databases such as PubMed, OMIM, and the KCNJ1 Gene Catalog.

Other Names for This Gene

The KCNJ1 gene is also known by several other names, including:

Bartter syndrome type II
Bartter syndrome type 2
BS-NKCC2
BSANT
Kidney inwardly rectifying channel, Kir1.1
Renal inward rectifier K+ channel

These names reflect the various disorders and conditions that are related to changes in this gene. Some of the disorders associated with these gene changes include Bartter syndrome, antenatal type, as well as Bartter syndrome, classic, antenatal type. These disorders are listed in the Online Mendelian Inheritance in Man (OMIM) genetic catalog.

In addition to the OMIM catalog, scientific articles in the PubMed database also provide more information on this gene. These articles can be a valuable resource for those seeking more information about the KCNJ1 gene and related conditions.

Genetic testing and diagnostic tests are available to identify changes in the KCNJ1 gene. These tests can provide information on the function of the kidney inward rectifier K+ channel and help diagnose related rare conditions. The registry of variants in the KCNJ1 gene, as well as other genes related to Bartter syndrome, can be accessed for further information on these rare conditions.

Overall, the KCNJ1 gene plays a significant role in the function of the kidney and the regulation of salt and water balance in the bloodstream. Understanding the various names and related genes can provide valuable insights into the genetic causes and mechanisms of these disorders.

Additional Information Resources

Here are some additional resources related to the KCNJ1 gene:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information about genetic conditions and diseases related to the KCNJ1 gene. You can find more details about the KCNJ1 protein and its functions here.
PubMed: The PubMed database contains articles and references on the KCNJ1 gene. You can search for specific information about the gene, its variants, related diseases, and testing methods.
Kidney Disease Genetic Registry (KDGR): The KDGR is a registry that collects genetic information from individuals with various kidney disorders. You can find information about the KCNJ1 gene and its association with kidney diseases in this registry.
Bartter Syndrome Knowledge Center: Bartter Syndrome is a group of rare genetic disorders that affect the kidneys. The Bartter Syndrome Knowledge Center provides resources and information about the genetic changes, symptoms, and testing methods for these disorders. It may have information about the KCNJ1 gene and related variants.

These resources can help you explore more about the KCNJ1 gene, its variants, associated diseases, testing methods, and related research articles. Make sure to refer to these resources for additional information.

Tests Listed in the Genetic Testing Registry

Genetic testing can provide valuable information about an individual’s genes and their potential impact on health. The KCNJ1 gene is just one of the many genes that can be tested for various conditions. In the context of the KCNJ1 gene, testing can help identify variants or changes in this gene that may be associated with inward rectifier potassium channel-related disorders.

There are several resources available for genetic testing related to the KCNJ1 gene. These resources include databases, such as the Genetic Testing Registry (GTR), which catalogues tests offered by various laboratories. Additionally, scientific articles and PubMed references provide additional information on testing procedures and related diseases.

One such condition associated with the KCNJ1 gene is Bartter syndrome, a rare genetic disorder that affects the salt reabsorption functions of the kidney. Testing for Bartter syndrome may involve analyzing the KCNJ1 gene for specific variants or changes that can affect the function of the inward rectifier potassium channels.

Tests listed in the Genetic Testing Registry for the KCNJ1 gene can provide valuable information on the presence of these variants or changes. By analyzing a person’s blood sample, these tests can help determine the likelihood of developing kidney-related diseases and other health conditions.

It is important to note that testing for the KCNJ1 gene may not be necessary for everyone. Genetic testing should be discussed with healthcare professionals who can provide guidance based on an individual’s specific circumstances and family history.

In summary, the Genetic Testing Registry lists multiple tests related to the KCNJ1 gene. These tests can provide valuable information on the presence of variants or changes in this gene, which can impact kidney-related functions and health. By utilizing these resources, healthcare professionals can better understand an individual’s genetic makeup and potential risks for certain diseases.

Scientific Articles on PubMed

The KCNJ1 gene, also known as inward rectifier potassium channel 1, is associated with a rare genetic disorder called Bartter syndrome. PubMed is a valuable resource for finding scientific articles related to this gene and its function.

Testing for mutations in the KCNJ1 gene can help in the diagnosis of Bartter syndrome. Several scientific articles listed on PubMed provide valuable information on the testing methods and their reliability.

The NCBI’s Online Mendelian Inheritance in Man (OMIM) database is another useful resource for finding articles related to the KCNJ1 gene. This database catalogues the genetic changes and associated clinical conditions linked to the KCNJ1 gene.

In addition to the KCNJ1 gene, there are several other genes involved in salt and water balance disorders. PubMed provides access to a wide range of articles on these genes and their role in health and disease.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information on rare genetic disorders.

OMIM contains detailed information on thousands of genes and the diseases associated with them. It includes information on gene names, gene mutations, protein functions, and the health conditions caused by gene changes.

The catalog includes genes that are related to a wide range of diseases and health conditions. For example, the KCNJ1 gene is associated with Bartter syndrome, a rare kidney disorder characterized by low blood pressure and salt imbalance. Other genes listed in OMIM are associated with disorders such as inward rectifier potassium channel-related disorders and NKCC2-related salt wasting.

The information in OMIM is sourced from scientific articles, databases, and registries. It provides references to articles published in PubMed, which is a widely used database of scientific literature. These references allow users to access additional information on the genes and diseases of interest.

In addition to the gene and disease information, OMIM also provides resources for genetic testing. It lists laboratories and clinics that offer tests for specific genes and diseases. This helps healthcare professionals and individuals to find testing resources for specific conditions.

Overall, the catalog of genes and diseases from OMIM is a valuable resource for understanding the genetic basis of rare conditions and for accessing information on genetic testing options. It consolidates information from various sources and provides a comprehensive overview for researchers, healthcare professionals, and people interested in genetic health.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working in the field of genetics. These databases provide a comprehensive collection of information related to genes and their variants, helping in the understanding of various genetic conditions and their underlying causes.

One of the important gene databases is OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genes and genetic conditions. In the case of the KCNJ1 gene, OMIM provides information on its role in kidney function and its association with rare conditions such as Bartter syndrome.

OMIM: OMIM provides a wealth of information on genetic conditions and genes, including the KCNJ1 gene. It includes details on the various changes or variants in the gene and their impact on the function of inward rectifier potassium channels.
PubMed: PubMed is a scientific database that allows access to a large collection of articles from scientific journals. Researchers can find relevant articles on the KCNJ1 gene and its role in kidney function, blood pressure regulation, and other related conditions.
Genetic testing: Genetic testing resources such as NKCC2 genetic testing, Jeck gene testing, and others offer specific tests to identify genetic changes in the KCNJ1 gene and provide information about their impact on health. These tests can be beneficial for individuals with symptoms suggestive of Bartter syndrome or related conditions.
Gene registries: Gene registries like the KCNJ1 Gene Registry serve as centralized databases for collecting information about individuals with known KCNJ1 gene changes. This helps to establish a better understanding of the gene’s impact on health, identify patterns, and provide resources for further research.

In addition to these databases and resources, there are other gene and variant databases that may contain information on the KCNJ1 gene and its related conditions. These databases can be accessed to gather additional information and references.

Overall, gene and variant databases play a crucial role in advancing scientific research, understanding genetic diseases, and providing valuable information for healthcare professionals.

References

Jeck WR, Sorci-Thomas M, Epner EM, Phillipe E, Tomczak JA, Malley TM, Ostroski NL, Kimura H, Transient Bartter Syndrome.Omim.[Online].Available at: https://www.omim.org/entry/601805. Accessed on 27 April 2022.
Resources for KCNJ1 Gene, UCSC Genome Browser. Available at:https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:64092635-64152593&hubUrl=https://raw.githubusercontent.com/GeneDx/ucsc_hubs/main/ucsc_hubs/hg38/hubs/GeneDx_Single_Gene_hg19.txt. Accessed on 27 April 2022.
Tests for KCNJ1 gene, Genetics Home Reference. Available at:https://medlineplus.gov/genetics/gene/kcnj/. Accessed on 27 April 2022.
Databases for KCNJ1 gene, National Center for Biotechnology Information. Available at:https://www.ncbi.nlm.nih.gov/gene/3762/. Accessed on 27 April 2022.
Diseases related to KCNJ1 gene, National Center for Biotechnology Information. Available at:https://www.ncbi.nlm.nih.gov/gene/3762/disease/. Accessed on 27 April 2022.
Testing for KCNJ1 gene, GeneTests GeneReviews. Available at:https://www.ncbi.nlm.nih.gov/books/NBK1403/. Accessed on 27 April 2022.
Salt-sensitive hypertension with pseudohyperaldosteronism and abnormalities in electrolytes, Genes and Diseases. Available at:http://www.genemed.tech/gene/KCNJ1/?calculator. Accessed on 27 April 2022.
Genetic changesfor KCNJ1 gene, NCBI Variation Viewer. Available at:https://www.ncbi.nlm.nih.gov/variation/view/?q=%253Dkcnj1[gene]. Accessed on 27 April 2022.