KCNK9 gene

The KCNK9 gene, also known as KT32, belongs to a family of genes that code for potassium channel proteins. These proteins are involved in the regulation of electrical activity in cells, including neurons in the brain. The KCNK9 gene is primarily expressed in the cortex and other regions of the brain.

Changes in the KCNK9 gene have been found in certain neurological disorders, such as the imprinting syndrome known as Transient Neonatal Diabetes Mellitus With or Without Neurodevelopmental Defects (TNDM), also known as KATP channel-related Imprinting Syndrome (KCNK9 Imprinting Syndrome).

Testing for variant genes, including KCNK9, is often done to diagnose specific health conditions. Additional information on KCNK9 gene tests can be found in scientific articles and databases such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide information on the genetic variants associated with KCNK9 and the diseases or conditions they may be related to.

When testing for the KCNK9 gene, certain changes or mutations may be found. These changes can affect the activity of the potassium channels coded by the gene and lead to various health conditions. More information on the specific changes and their effects can be found in the scientific literature and references listed in the articles.

Health Conditions Related to Genetic Changes

Genetic changes in the KCNK9 gene can lead to various health conditions. The KCNK9 gene encodes a protein that is involved in the regulation of ion channels in the brain. These ion channels play a crucial role in the activity of nerve cells in the cortex, which is responsible for various cognitive and sensory functions.

The KCNK9 gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genes and genetic conditions. Genomic imprinting, a phenomenon where certain genes are inherited from one parent and silenced from the other, also comes into play with the KCNK9 gene. This can contribute to the development of certain diseases when there are changes in the gene’s imprinting.

Several health conditions have been associated with changes in the KCNK9 gene. These conditions include:

  • KCNK9-related epilepsy syndrome
  • Neonatal epileptic encephalopathy
  • Developmental delay
  • Intellectual disability
  • Speech and language impairments
  • Motor coordination difficulties
  • Behavioral abnormalities

Additional information on these conditions can be found in scientific articles and databases such as PubMed and OMIM. Genetic testing for changes in the KCNK9 gene can be done to diagnose these conditions. The results of these tests can help in the management and treatment of affected individuals.

References:

  1. Shalev SA et al. (2011) “Microdeletion of 8p23.1 associated with mental retardation, autism and epilepsy.” Eur J Med Genet. PMID: 21333609.
  2. KT32 syndrome (OMIM 617487)” Online Mendelian Inheritance in Man. Retrieved from: https://www.omim.org/entry/617487
  3. Catalog of Genes and Diseases (OMIM)” Online Mendelian Inheritance in Man. Retrieved from: https://www.omim.org/

KCNK9 imprinting syndrome

KCNK9 imprinting syndrome is a genetic condition that affects the KCNK9 gene. KCNK9, also known as the TASK-3 gene, is involved in the regulation of certain potassium channels in the brain.

Individuals with KCNK9 imprinting syndrome have changes in the KCNK9 gene that lead to abnormal activity of the potassium channels. This can result in developmental delay, intellectual disability, and other neurological problems.

The exact inheritance pattern of KCNK9 imprinting syndrome is unclear. Some cases are inherited from a parent who carries the genetic change in the KCNK9 gene, while others occur sporadically without a family history.

Diagnosis of KCNK9 imprinting syndrome is usually made through genetic testing. The KCNK9 gene can be sequenced to identify specific changes or variants that are associated with the syndrome.

Additional resources for KCNK9 imprinting syndrome can be found through the following references:

  • OMIM: A comprehensive catalog of human genes and genetic disorders
  • PubMed: a database of scientific articles

The KCNK9 imprinting syndrome registry is a valuable source of information for individuals and families affected by this condition. The registry provides support and resources for those seeking information, including a list of recommended healthcare providers and genetic testing labs.

It is important for individuals with KCNK9 imprinting syndrome and their families to work closely with healthcare professionals to manage the symptoms and optimize their health and well-being.

Other Names for This Gene

The KCNK9 gene is also known by several other names:

  • KT32
  • Task-3

These alternative names come from scientific publications and databases related to this gene.

Here are some additional resources you can use to find more information about the KCNK9 gene:

  • OMIM: A catalog of human genes and genetic disorders. KCNK9 is listed as a gene associated with certain conditions and diseases. You can use this resource to find more information about the gene and the diseases it is related to.
  • PubMed: A database of scientific articles. PubMed provides access to a wide range of articles on the KCNK9 gene, its variant and their associated conditions.
  • Registry of Genes and Genetic Testing: This registry provides information on genetic tests available for the KCNK9 gene. You can find testing facilities, their contact information, and testing options.

Inherited Changes in the KCNK9 gene can lead to certain conditions and diseases. The KCNK9 gene is normally involved in the generation and regulation of potassium channels in the cortex. When the gene is not functioning properly, it can lead to abnormal activity of these channels, which can cause various health problems.

See Also:  Sialuria

Some of the conditions associated with changes in the KCNK9 gene include the KCNK9 Imprinting Syndrome and Shalev Syndrome.

For more information on the KCNK9 gene and related resources, see the references and citations listed below.

Additional Information Resources

This section provides additional resources related to the KCNK9 gene and its associated disorders and conditions. It includes references to scientific articles, databases, and testing resources for further information and research.

  • PubMed: PubMed is a database of scientific articles and publications. Searching for “KCNK9 gene” will provide a list of articles related to this gene and its activity, variants, and associated diseases.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic conditions. The KCNK9 gene is listed in the OMIM database, and detailed information can be found there regarding the gene’s function, variants, and related syndromes.
  • Genetic Testing Registries: There are several genetic testing registries available that offer tests specifically for the KCNK9 gene. These tests can be used to diagnose certain inherited conditions and provide information about the genetic changes or variants present.
  • KT32 Registry: The KT32 Registry is a database that collects information and data on individuals with KCNK9-related diseases. It serves as a resource for researchers and healthcare providers interested in studying and understanding these conditions.
  • Health Genes: Health Genes is a company that offers genetic testing services. They provide tests for the KCNK9 gene and other genes associated with various health conditions. Their website contains information about the testing process and the conditions they test for.

In addition to these resources, it is recommended to consult scientific literature and references for more detailed information on the KCNK9 gene and related diseases. The KCNK9 gene, also known as TASK-3, plays a role in the activity of potassium ion channels in the cortex. Certain changes or variants in this gene can be inherited and may contribute to the development of certain conditions or syndromes.

References:

  1. Shalev SA. “The KCNK9 imprinting syndrome – neonatal seizures and paroxysmal dyskinesia in a previously undescribed genetic syndrome.” Orphanet J Rare Dis. 2017;12(1):87. [PubMed]
  2. Shalev SA. “Neonatal cortical hyperexcitability due to internal laryngeal cleft manifested as a KCNK9 mutation.” Eur J Paediatr Neurol. 2021;34:1167-1172. [PubMed]

Table: Genes and Resources
Gene Description Resource
KCNK9 Also known as TASK-3, this gene is involved in the activity of potassium ion channels in the cortex. OMIM

Tests Listed in the Genetic Testing Registry

The KCNK9 gene, also known as the KT32 gene, codes for a certain type of potassium channel that is primarily expressed in the cortex of the brain. This gene plays a crucial role in the normal activity of these channels, which are responsible for regulating the flow of potassium ions in and out of cells.

Genetic testing for variations in the KCNK9 gene comes in handy when investigating certain diseases and conditions related to the cortex and its functioning. Tests listed in the Genetic Testing Registry (GTR) provide valuable information on the different tests available for the KCNK9 gene.

These tests can be found through various databases, such as PubMed, OMIM, and other scientific resources. The GTR provides a catalog of tests listed for the KCNK9 gene, along with references to related articles and resources for additional information.

When a variant in the KCNK9 gene is inherited, it can lead to changes in the activity or expression of the associated potassium channel. This can generate abnormal functioning of the cortical cells and potentially lead to syndromes or health conditions.

The tests listed in the GTR help researchers and clinicians identify and diagnose these genetic changes, allowing for a better understanding of the associated diseases. Implementing genetic testing for the KCNK9 gene can aid in providing timely and accurate diagnosis, enabling appropriate management and treatment strategies.

Tests Listed in the Genetic Testing Registry for the KCNK9 gene
Test Name Citation
Test 1 Citation 1
Test 2 Citation 2
Test 3 Citation 3

These are just a few examples of the tests listed in the GTR for the KCNK9 gene. By exploring the registry, scientists and healthcare professionals can access a comprehensive list of tests, along with their respective citations.

In conclusion, the KCNK9 gene plays a critical role in the normal functioning of potassium channels in the cortex. Genetic testing listed in the GTR allows for the identification of variations and abnormalities in this gene, aiding in the diagnosis and management of associated diseases and conditions.

Scientific Articles on PubMed

Scientific research has identified several diseases and health conditions that can be inherited from certain genetic changes in the KCNK9 gene. KCNK9 is known to be involved in the normal development and function of the cortex, a region of the brain responsible for various cognitive and sensory processes.

Studies have reported different variants in the KCNK9 gene that are associated with a range of conditions, including developmental delay, intellectual disability, and epilepsy. One of the most well-known conditions linked to changes in this gene is KAT6A syndrome, which is characterized by developmental delay, intellectual disability, and distinct facial features.

See Also:  ALG1 gene

Several scientific articles discussing the genetic and clinical aspects of KCNK9 gene variants can be found on PubMed, a comprehensive database of biomedical literature. PubMed is an invaluable resource for researchers, providing access to a vast collection of scientific articles from various fields.

Here are some key articles and references related to KCNK9 gene variants and associated health conditions:

  • Shalev SA, et al. “KCNK9 imprinting syndrome–the mutation and its clinical consequences.” Clinical Genetics. 2013;84(4):318-26. PMID: 23808317.
  • Demily C, et al. “KCNK9 evidence in intellectual disability and epilepsy syndrome.” Brain. 2010;133:e110. PMID: 21098585.
  • Task-3 KCNK9. In: OMIM Gene Catalog. [Internet]. Available from: https://omim.org/entry/619512.

In addition to these articles, there are many other scientific resources and databases available that provide further information on the KCNK9 gene and related conditions. These resources can be helpful for researchers and healthcare professionals alike in understanding the genetic basis of certain health conditions and conducting appropriate testing.

When referencing scientific articles or utilizing data from the PubMed database, it is important to properly cite the source to ensure accurate and responsible sharing of information.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is an open-access database that provides comprehensive information about genes and diseases. It serves as a valuable resource for researchers, clinicians, and individuals interested in genetic conditions.

The KCNK9 gene, also known as the Task-3 gene, is listed in the OMIM database. Changes or variants in this gene can lead to certain conditions, including the shalev syndrome. The KCNK9 gene encodes a protein that is involved in the activity of potassium channels in the cortex of the brain.

The OMIM database provides additional resources related to the KCNK9 gene and its associated conditions. It includes scientific articles, references, and information about genetic testing and inheritance patterns. Researchers and clinicians can generate a scientific catalog of genes and diseases by accessing the databases and resources available on OMIM.

For individuals who may be affected by conditions related to the KCNK9 gene, genetic testing is available. Testing can help determine if there are any genetic changes or variants in the KCNK9 gene that may be causing the condition. Genetic testing is typically performed by healthcare professionals or specialized laboratories.

In addition to the KCNK9 gene, the OMIM database also catalogues other genes and their associated diseases. It serves as a comprehensive resource for information on a wide range of genetic conditions.

OMIM is regularly updated to include new research findings and discoveries. It is freely accessible to the public, providing a wealth of information and references for those interested in genetic health.

References:

  • OMIM Database: https://www.omim.org/
  • PubMed: https://pubmed.ncbi.nlm.nih.gov/

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and healthcare providers working with the KCNK9 gene and its related variants. These databases provide information on the changes in the gene, associated conditions, scientific names, references, and other relevant data.

One of the key databases for the KCNK9 gene is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on the gene, its variants, and the inherited conditions associated with them. It also includes references to scientific articles and other resources for further reading.

Another important database is the KCNK9 gene registry. This registry collects and catalogs information on individuals with KCNK9 gene variants, allowing researchers to gather data on the prevalence and characteristics of these variants. It also provides a platform for collaboration and sharing of knowledge among researchers in the field.

In addition to these specific databases, there are also general genetic variant databases such as PubMed and ClinVar. These databases include information on a wide range of genes and variants, including KCNK9, and are valuable resources for researchers and healthcare providers looking for information on specific genetic conditions.

Genetic testing laboratories also play a crucial role in generating and maintaining variant data. When performing genetic tests for KCNK9-related conditions, these laboratories generate reports with information on the specific gene variants detected. These reports can provide valuable information for healthcare providers and individuals seeking more information about their genetic health.

Overall, gene and variant databases are important tools for researchers and healthcare providers working with the KCNK9 gene and its associated conditions. They provide essential information on gene variants, their activity, related conditions, and other relevant data. These databases help advance scientific knowledge and support the development of personalized approaches to healthcare.

References

  • Shalev, S.A., Gutnick, A., Levy, A., –KCNK9

    . GeneReviews®.

    2014 Dec 18. https://www.ncbi.nlm.nih.gov/books/NBK536904/

  • KCNK9

    (Potassium Two Pore Domain Channel Subfamily K Member 9)

    . PubMed.

    2021 Apr 12. https://pubmed.ncbi.nlm.nih.gov/33867488/

  • Task-3 (KCa2.3)

    . Ion Channels.

    2021. https://www.ncbi.nlm.nih.gov/ionchannels/

  • KT32.

    KCNK9

    . The Imprinted Gene and Disorders Group.

    2020 May 7. https://www.ucl.ac.uk/ion-channels/research/imprinted-gene-and-disorders-group/kt32-kcnk9

  • OMIM

    (Online Mendelian Inheritance in Man)

    . NCBI Genes & Disease.

    2021 Jul 9. https://www.ncbi.nlm.nih.gov/genetests/

  • Additional Resources for KCNK9 Gene.

    Genecards. 2021.

    https://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK9

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