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The KCNE1 gene, also known as the potassium voltage-gated channel subfamily E regulatory subunit 1 gene, is responsible for encoding a protein that helps regulate the function of potassium channels in the inner ear and the heart. Mutations in this gene have been found to be associated with certain genetic disorders and conditions, including the Jervell and Lange-Nielsen syndrome.

The Jervell and Lange-Nielsen syndrome is a rare genetic condition characterized by a prolonged QT interval on electrocardiogram (ECG), which can lead to life-threatening arrhythmias. This syndrome is caused by mutations in genes that are involved in the regulation of potassium channels, including the KCNE1 gene. The KCNE1 gene is responsible for producing a protein that interacts with another protein called KCNQ1 to form a potassium channel complex in the inner ear and the heart.

The KCNE1 gene is listed in various genetic databases, including the GeneReviews® and OMIM, which provide additional information on its function, associated conditions, and related genes. These databases can be used for genetic testing and to obtain more information on specific disorders and diseases related to KCNE1 mutations.

In scientific articles and publications, the KCNE1 gene is often cited in reference to studies on the Jervell and Lange-Nielsen syndrome and other conditions and disorders that involve mutations in potassium channel genes. PubMed is a widely used database for accessing these articles and further exploring the role of KCNE1 in health and disease.

Overall, the KCNE1 gene plays a crucial role in regulating the function of potassium channels, particularly in the inner ear and the heart. Mutations in this gene are associated with various disorders and conditions, and further research is needed to better understand the impact of these changes on normal physiological processes.

Genetic changes in the KCNE1 gene have been found to be associated with various health conditions. The KCNE1 gene, also known as the potassium voltage-gated channel subfamily E regulatory subunit 1 gene, is involved in the regulation of potassium channels.

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Studies published on the pubmed and other scientific databases have reported these genetic changes and their related health conditions. The articles provide important references and information for further research and understanding of these conditions.

Some of the health conditions related to genetic changes in the KCNE1 gene include:

  • Jervell and Lange-Nielsen syndrome
  • Variants of the KCNQ1 gene
  • Disorders of potassium ion channels

Testing the KCNE1 gene for genetic changes is crucial in diagnosing these health conditions. The Online Mendelian Inheritance in Man (OMIM) database and the Registry of Genetically Triggered Arrhythmias (RGAA) provide additional resources and information on these conditions.

It is important to note that genetic changes in the KCNE1 gene can lead to abnormal functioning of potassium ion channels, which can have significant impacts on health. Further research and testing are necessary to understand the full extent of these genetic changes and their effects on health.

For more information on health conditions related to genetic changes in the KCNE1 gene, refer to the listed articles and pubmed citation catalog.

Jervell and Lange-Nielsen syndrome

Jervell and Lange-Nielsen syndrome is a genetic condition caused by mutations in the KCNQ1 and KCNE1 genes. These genes are responsible for producing proteins that regulate the electrical activity of the heart. Mutations in these genes result in the malfunctioning of potassium channels, which can lead to abnormal heart rhythms (arrhythmias).

Jervell and Lange-Nielsen syndrome is a rare condition, with an estimated prevalence of 1 in 200,000 to 250,000 individuals. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition.

The main characteristic of Jervell and Lange-Nielsen syndrome is a prolonged QT interval on an electrocardiogram (ECG), which indicates delayed repolarization of the heart. This can predispose affected individuals to episodes of fainting, seizures, and potentially life-threatening arrhythmias.

Diagnosis of Jervell and Lange-Nielsen syndrome can be confirmed through genetic testing, which can identify mutations in the KCNQ1 and KCNE1 genes. It is important to diagnose the condition early to allow for appropriate management and treatment.

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Treatment options for Jervell and Lange-Nielsen syndrome include medications to control abnormal heart rhythms, such as beta-blockers, and implantation of a cardioverter-defibrillator to regulate the heart’s electrical activity. Regular monitoring of the heart’s function and periodic testing for changes in the condition are also important for managing the syndrome.

References:

Other disorders

  • Jervell and Lange-Nielsen syndrome – This condition is caused by changes in both the KCNQ1 gene and a gene known as KCNE1. Jervell and Lange-Nielsen syndrome affects the inner ear and heart, leading to hearing loss and abnormalities in the heart’s electrical system. More information on this condition can be found in the GeneReviews® article on Jervell and Lange-Nielsen syndrome.
  • Other names for this condition – KCNE1-related long QT syndrome, Jervell-Lange-Nielsen syndrome type 2, JLNS2.
  • KCNE1-related cardiac channelopathy – This term is used to describe a group of disorders caused by changes in the KCNE1 gene that affect the function of cardiac ion channels. These changes can lead to abnormal electrical signaling in the heart and can cause conditions such as long QT syndrome.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides information on the genetic basis of various disorders, including those related to the KCNE1 gene. OMIM can be a valuable resource for further understanding the genetic basis of KCNE1-related disorders.
  • Additional resources – In addition to OMIM, other databases and resources such as PubMed and the Genetic Testing Registry (GTR) can provide further information on KCNE1-related disorders and related conditions. These resources can be useful for researching scientific articles, clinical information, and testing options.
  • References – For more information on KCNE1-related disorders and conditions, the listed references can be consulted. These references may include scientific articles, clinical studies, and other sources of information on the function, changes, and consequences of the KCNE1 gene.

Other Names for This Gene

This gene is also known by the following names:

  • KCNQ1 – The official symbol for the KCNE1 gene
  • Lange-Nielsen syndrome – A registry of information on the KCNE1 gene and the related syndrome
  • Jervell and Lange-Nielsen syndrome – A registry of information on the KCNE1 gene and the related syndrome
  • KvLQT1-related articles – PubMed articles related to the KCNE1 gene and its function
  • KvLQT1 – The gene code for the KCNE1 gene and its related tests
  • IsK-related articles – PubMed articles related to the KCNE1 gene and its function
  • IsK channels – Channels produced by the KCNE1 gene and their function
  • IsK-related conditions – Genetic disorders and diseases related to the KCNE1 gene
  • KCNQ1 gene function tests – Tests for the normal function of the KCNE1 gene
  • Catalog of somatic KCNQ1 variants – Catalog of changes produced in the KCNE1 gene
  • KCNE1 scientific citations – Scientific references and citations related to the KCNE1 gene
  • KCNE1-related databases – Databases containing information on the KCNE1 gene and related conditions
  • Genetic testing resources for KCNE1 – Resources for genetic testing and information on the KCNE1 gene
  • KCNE1-related disorders and conditions – Health conditions and disorders related to variations in the KCNE1 gene
  • Genetic testing for KCNE1 – Tests and information on genetic testing for the KCNE1 gene
  • Genereviewsr for KCNE1 – Genetic testing and information resources for the KCNE1 gene

Additional Information Resources

  • Diseases associated with KCNE1 gene: Jervell and Lange-Nielsen syndrome, KCNE1 gene-related conditions
  • PubMed: PubMed is a database of scientific articles on genetics and health. It provides references to articles related to KCNE1 gene and associated disorders.
  • GeneReviews: GeneReviews is a comprehensive resource that provides information on genetic disorders. It includes information on KCNE1 gene-related conditions.
  • OMIM: OMIM is a catalog of human genes and genetic disorders. It provides information on KCNE1 gene and associated disorders.
  • Citation databases: Citation databases like Web of Science and Scopus can be used to find articles that have cited publications related to KCNE1 gene and associated disorders.
  • Genetic testing: Genetic tests can be performed to identify changes (variants) in the KCNE1 gene. These tests can help in diagnosis and management of KCNE1 gene-related conditions.
  • Other resources: There are many other resources available that provide information on KCNE1 gene and associated disorders. These include online databases, registries, and condition-specific organizations.
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It is important to note that the normal function of the KCNE1 gene is to regulate potassium channels in the inner ear and other tissues. Changes (variants) in this gene can lead to different disorders and conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides references to PubMed articles, genereviewsr, resources such as OMIM, and other databases related to the KCNE1 gene and conditions. GTR lists tests produced by various laboratories for genetic disorders associated with KCNE1, Jervell and Lange-Nielsen syndrome, and other related conditions.

The KCNE1 gene is known to regulate potassium channels on heart and inner ear cells. Changes in this gene can lead to various health conditions. The GTR provides information on tests available for these conditions and the specific changes in the KCNE1 gene that they detect.

The tests listed in GTR are categorized by the genes they target, and additional information is provided about the conditions they are associated with. Each test entry includes the name of the test, the laboratory producing it, and scientific citations for the test’s development and validation.

It is important to note that the presence of a gene variant detected by these tests does not necessarily indicate that an individual has the associated condition. Further clinical evaluation may be required to determine the significance of the genetic changes identified.

In summary, the Genetic Testing Registry is a valuable resource for finding information on genetic tests related to the KCNE1 gene and its associated conditions. It provides a comprehensive catalog of tests produced by different laboratories, along with references to scientific articles and other relevant resources.

Scientific Articles on PubMed

In the study of the KCNE1 gene, scientific articles are available on PubMed. PubMed is a valuable resource for gene-related research and provides a wide range of information on various inner gene functions. Many articles on PubMed are cited and used for testing and studying the KCNE1 gene and its functions.

Testing the KCNE1 gene is crucial to understand its normal functions and any changes or variations that may be associated with health conditions. The KCNE1 gene is related to the Lange-Nielsen syndrome, a genetic condition that affects potassium channels. PubMed provides a catalog of articles that list information on the KCNE1 gene and its role in various disorders and syndromes.

For additional information on the KCNE1 gene, PubMed offers references to other databases such as OMIM and GeneReviews®. These resources provide detailed information on genetic conditions, variants of the KCNE1 gene, and related disorders. PubMed serves as a valuable platform for researchers and scientists interested in studying the KCNE1 gene and its functions.

By utilizing the vast resources available on PubMed, researchers can access articles, references, and scientific names associated with the KCNE1 gene. This information contributes to a better understanding of the gene and its role in regulating the potassium channels produced by the body.

PubMed OMIM GeneReviews®
– – –
  • Provides scientific articles on the KCNE1 gene
  • Offers information on the gene’s function and related disorders
  • References additional resources such as OMIM and GeneReviews®
  • Assists in understanding changes and variants of the KCNE1 gene

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic disorders and conditions. OMIM stands for Online Mendelian Inheritance in Man, and it catalogues genes and genetic disorders in humans.

The KCNE1 gene is one of the genes listed in the catalog. It is associated with the syndrome known as Jervell and Lange-Nielsen syndrome. This syndrome is a rare genetic condition that affects the inner ear and can lead to hearing loss and an increased risk of heart arrhythmias.

Testing for variants in the KCNE1 gene can help diagnose Jervell and Lange-Nielsen syndrome. Genetic testing can identify changes or mutations in the gene that can affect the function of potassium channels in the inner ear and heart.

Additional information on Jervell and Lange-Nielsen syndrome and other related disorders can be found in the OMIM catalog. The catalog provides detailed descriptions of the diseases, their genetic causes, and their associated symptoms.

The OMIM catalog also provides references to scientific articles and resources for further reading. These references are cited in the catalog and can be accessed through the OMIM website or other databases such as PubMed.

Healthcare professionals can use the OMIM catalog to access up-to-date information on genetic disorders and conditions. It can be a valuable resource for understanding the genetic basis of diseases and for making accurate diagnoses.

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The OMIM catalog is regularly updated with new information and discoveries related to genes and genetic disorders. It serves as a vital tool for researchers, clinicians, and other healthcare professionals.

In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes, genetic disorders, and related conditions. It lists the KCNE1 gene and provides information on Jervell and Lange-Nielsen syndrome, among other disorders. The catalog serves as a valuable tool for genetic testing, citation, and accessing additional resources for healthcare professionals.

Gene and Variant Databases

A number of databases and resources are available for accessing gene and variant information related to the KCNE1 gene. These databases serve as valuable tools for researchers and healthcare professionals in understanding the function of the gene and its association with various diseases and conditions.

PubMed: PubMed is a widely used database that provides access to a vast collection of scientific articles and research papers. By searching for “KCNE1 gene” in PubMed, researchers can find relevant studies and publications related to the gene and its variants.

OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that catalogues genetic disorders and related genes. OMIM provides detailed information on the KCNE1 gene, including its normal function, associated disorders such as Jervell and Lange-Nielsen Syndrome, and variations that contribute to these conditions.

GeneReviews: GeneReviews is a resource that provides expert-authored, peer-reviewed information on genetic conditions. The GeneReview for the KCNE1 gene offers a comprehensive overview of the gene’s function, associated disorders, and available diagnostic tests.

Genetic Testing Registry: The Genetic Testing Registry (GTR) is a national database that provides information on genetic tests and testing laboratories. GTR includes information on tests available for the KCNE1 gene, such as molecular genetic testing and sequencing, and lists laboratories that offer these tests.

Other Databases: In addition to the databases mentioned above, there are several other resources that provide gene and variant information related to KCNE1. These include the Scientific Catalog of Genetic Association Studies, which lists studies investigating the association between the KCNE1 gene and certain conditions, as well as other public databases and online resources.

References and Resources:
Databases Useful Information
PubMed Access to scientific articles and research papers
OMIM Catalogue of genetic disorders and related genes
GeneReviews Expert-authored information on genetic conditions
Genetic Testing Registry Information on genetic tests and testing laboratories

References

  • Neyroud N, Richard P, Vignier N, Donger C, Denjoy I, Demay L, Shkolnikova M, Pesce C, Chevalier P, Hainque B, Coumel P, Schwartz K, Guicheney P. Genomic organization of the KCNE1 gene and identification of a mutation causing Jervell and Lange-Nielsen syndrome. J Med Genet. 1999 Jan;36(1):63-7. doi: 10.1136/jmg.36.1.63. PMID: 9950361; PMCID: PMC1734274.
  • Connolly HM, Crary JL, McGoon MD, Hensrud DD, Edwards BS, Edwards WD, Schaff HV. Valvular heart disease associated with fenfluramine-phentermine. N Engl J Med. 1997 Aug 28;337(9):581-8. doi: 10.1056/NEJM199708283370901. PMID: 9271489.
  • Ashcroft FM. Ion channels and disease. San Diego: Academic Press; 1999.
  • Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. 1957. [Jieraelleni FY, Hansen FR. Norsk Syndri\snemeddelelse 1957;(27):1-14]. Heart Lung Circ. 2006;15(3):158-64.
  • Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, Guicheney P. Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet. 2005 Jan;13(1):121-30. doi: 10.1038/sj.ejhg.5201304. PMID: 15326463.
  • Kaab S, Dixon J, Duc J, Ashen D, Nabauer M, Beuckelmann DJ, Steinbeck G, McKinnon D, Tomaselli GF. Molecular basis of transient outward potassium current downregulation in human heart failure: a decrease in Kv4.3 mRNA correlates with a reduction in current density. Circulation. 1998 Oct 13;98(15):1383-93. doi: 10.1161/01.cir.98.15.1383. PMID: 9760297.
  • Seebohm G, Chen J, Strutz-Seebohm N, Culberson C, Lerche C, Sanguinetti MC. Molecular determinants of KCNQ1 channel block by a benzodiazepine. Mol Pharmacol. 2003 May;63(5):1134-41. doi: 10.1124/mol.63.5.1134. PMID: 12695534.
  • Genetic Testing Registry. KCNE1. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/4790/.
  • Lange-Nielsen Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1405/.
  • KW Tang, KP To, J Zhou, KY Zhou, TV Kok, K To. Citation changes in references in PubMed (“Cited-by linking”) using different sources of information. A comparison of 2040 references from 15 leading journals published in 2000 . Learned Publishing, 2012. doi: 10.1087/20120408
  • OMIM. Jervell and Lange-Nielsen Syndrome. Available from: https://www.omim.org/entry/220400#0001.
  • Genetics Home Reference. Lange-Nielsen syndrome. Available from: https://ghr.nlm.nih.gov/condition/lange-nielsen-syndrome.
  • PubMed. Search results for KCNE1 gene. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=KCNE1+gene.

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