The SCN10A gene, also known as sodium channel, voltage-gated, type X, alpha subunit, plays a crucial role in the transmission of electrical signals in the heart. It is responsible for the production of a protein that forms a sodium ion channel, allowing the flow of sodium ions into cardiac cells, which is essential for the generation and propagation of the heartbeat.
Tests on the SCN10A gene can provide valuable information about its function and identify any changes or variants that may be related to different cardiac conditions. These tests can help in the diagnosis and management of certain genetic heart diseases, such as inherited arrhythmias or cardiac conduction disorders.
Publications in PubMed and other scientific databases provide a wealth of information about the SCN10A gene. Many articles listed in the OMIM database and other resources discuss the role of this gene in various diseases and conditions, including spinal cord disorders, small fiber neuropathy, and other related conditions.
Additional references and resources are available in the citation catalog for further exploration of the SCN10A gene and its impact on health and disease. This gene is still relatively unknown, and further research is needed to fully understand its functions and implications in different conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the SCN10A gene have been associated with several health conditions. The SCN10A gene provides instructions for making a protein that is involved in the production of sodium channels. Sodium channels are responsible for generating electrical signals that help regulate the heartbeat and transmit nerve impulses in various parts of the body.
Some of the health conditions related to genetic changes in the SCN10A gene include:
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- Brugada syndrome: This is a heart rhythm disorder that can cause fainting, seizures, and sudden death. Variants in the SCN10A gene may disrupt the function of sodium channels in the heart, leading to abnormal heart rhythms.
- Small fiber neuropathy: This condition affects the small nerve fibers in the skin, causing pain, numbness, and tingling. Changes in the SCN10A gene may impair the function of sodium channels in small nerve fibers, contributing to the development of small fiber neuropathy.
- Heart diseases: Some studies have suggested that genetic changes in the SCN10A gene may be associated with an increased risk of certain heart diseases, such as atrial fibrillation and ventricular tachycardia.
- Other conditions: Additional health conditions related to genetic changes in the SCN10A gene are still unknown and under investigation. Researchers are actively studying the role of this gene in various diseases, and more information is continually being discovered.
Testing for genetic changes in the SCN10A gene can be done through various genetic testing methods. These tests can help identify specific variants or changes in the gene that may be associated with the aforementioned health conditions.
For further information on health conditions related to genetic changes in the SCN10A gene, one can refer to scientific articles, databases, and registry resources. Some of the prominent resources in this field include PubMed, OMIM, and ANANd. These resources provide access to a vast catalog of genes, genetic disorders, and scientific references for additional reading.
Small fiber neuropathy
Small fiber neuropathy is a disorder that affects the nerve fibers, specifically the small nerve fibers. These small nerve fibers transmit sensory and autonomic information related to pain and temperature sensation. Small fiber neuropathy can cause a variety of symptoms including burning pain, changes in temperature perception, and abnormal sweating.
Research studies and medical databases such as PubMed and OMIM have listed several genetic disorders associated with small fiber neuropathy. One such gene involved in small fiber neuropathy is the SCN10A gene. Mutation or variant in this gene can lead to changes in the channels that transmit signals in the small nerve fibers. These changes may result in the development of small fiber neuropathy.
Further research and testing on genetic conditions and the role of genes in small fiber neuropathy are ongoing. Additional scientific articles, references, and resources related to small fiber neuropathy can be found in databases and registries dedicated to the study of these diseases.
For individuals experiencing symptoms of small fiber neuropathy, it is important to consult with a healthcare professional. Health tests and examinations can help diagnose the condition and determine appropriate treatment options. In some cases, genetic testing may be recommended to identify any unknown genetic factors contributing to small fiber neuropathy.
Genetic testing can also be used to identify other disorders associated with small fiber neuropathy. By identifying specific genetic changes, healthcare professionals can provide more targeted treatment options and management strategies for individuals affected by small fiber neuropathy.
| Source | Citation |
|---|---|
| Anand P | Small fibers, big impact: clinical and research advances in small fiber neuropathy |
| Severs M | Variant profiling to identify the genetic basis of small fiber neuropathy |
These articles provide valuable information and references for individuals interested in learning more about small fiber neuropathy and its genetic underpinnings. By continuing research and advancements in the understanding of small fiber neuropathy, healthcare professionals can develop more effective treatments and management strategies for individuals affected by this condition.
Other disorders
In addition to SCN10A gene mutations causing Brugada syndrome type 3, there are other disorders associated with changes in this gene. These conditions include:
- Small fiber neuropathy
- Related cardiac conduction defects
- Unexplained congenital heart disease
- Neuropathy, small fiber, severs distal
These disorders may be part of the spectrum of SCN10A-related diseases, but their specific role in the genetic and nerve conduction changes is currently unknown.
References to scientific articles and databases related to these other disorders can be found on the OMIM, PubMed, and other genetic resources. Specific genes and variants associated with these conditions can be listed in the NCBI Gene database and the Human Gene Mutation Database (HGMD). Additional information and resources on genetic testing for these disorders can be found on the Genetic Testing Registry.
Other Names for This Gene
The SCN10A gene is also known by several other names, including:
- Nerve sodium channel alpha subunit 10
- Nav1.8
- Neuropathy, idiopathic small fiber, susceptibility to
- PN5
- SNS
- Paroxysmal extreme pain disorder 2
- SCN10
These additional names reflect the various roles and conditions associated with this gene. The SCN10A gene is known to transmit electrical signals in nerve fiber channels and is related to a number of diseases and disorders. It plays a key role in regulating heartbeat and changes in its function have been linked to conditions such as paroxysmal extreme pain disorder and idiopathic small fiber neuropathy.
Information about the SCN10A gene can be found in various databases, scientific articles, and genetic resources. These resources include databases such as OMIM (Online Mendelian Inheritance in Man), which provides a registry of genes and their associated disorders. PubMed is another valuable resource for finding scientific articles and citations related to this gene.
Testing for variants in the SCN10A gene may be part of genetic testing for certain conditions. Genetic testing can help diagnose and identify the underlying causes of different disorders and diseases. It can also provide information about the potential risks and treatments for these conditions.
Further research and studies are ongoing to understand the exact role of the SCN10A gene and its significance in various health conditions. As scientists continue to investigate, the names and understanding of this gene may evolve.
Additional Information Resources
- OMIM – Online Mendelian Inheritance in Man: a catalog of human genes and genetic disorders. It provides information on the role of the SCN10A gene in various diseases and conditions. You can find more information about SCN10A-related disorders by searching for the gene name or other related terms.
- PubMed – a database of scientific articles. Searching for “SCN10A gene” or related keywords will provide you with research papers and studies on this gene and its role in various conditions.
- Registry of Genes and Diseases – a database that contains information on genes and their associated diseases. You can search for SCN10A to find diseases and conditions related to this gene.
- Genetic Testing – if you suspect you have a disorder related to the SCN10A gene, you may want to consider genetic testing. It can help diagnose certain conditions and provide information on potential treatment options.
- Spinal Muscular Atrophy – a genetic disorder that affects the nerve cells in the spinal cord and causes muscle weakness and atrophy. It is not directly related to the SCN10A gene, but it is worth mentioning as it is a condition that can affect nerve cells.
In addition to the resources listed above, there may be other websites, databases, articles, and citation references available that provide further information on the SCN10A gene and its role in various disorders. It is always recommended to consult trusted medical professionals or genetic counselors for comprehensive and reliable information on specific conditions and genetic testing.
Tests Listed in the Genetic Testing Registry
The SCN10A gene, which encodes a sodium channel, plays a key role in transmitting electrical signals in nerve cells. Mutations in this gene are associated with various disorders and conditions, including small fiber neuropathy, inherited neuropathic pain, and cardiac arrhythmias.
In the Genetic Testing Registry, there are several tests listed that are related to the SCN10A gene. These tests aim to identify changes or mutations in the gene that may be associated with the development of certain diseases or conditions.
Some of the tests listed include:
- SCN10A Gene Sequencing: This test involves sequencing the entire SCN10A gene to identify any variants or changes in the gene sequence.
- SCN10A Variant Analysis: This test specifically analyzes known variants in the SCN10A gene that have been associated with certain diseases or conditions.
- SCN10A Gene Expression Analysis: This test examines the expression levels of the SCN10A gene in different tissues or cell types to understand its role in various disorders.
These tests may provide valuable information for diagnosing and managing conditions related to the SCN10A gene. They can help healthcare professionals determine the genetic basis of certain diseases and guide treatment decisions.
Moreover, the Genetic Testing Registry provides additional resources and information on these tests. It includes references to scientific articles, databases, and other relevant sources to further explore the role of the SCN10A gene in health and disease.
Overall, the tests listed in the Genetic Testing Registry play an important part in understanding the impact of genetic changes in the SCN10A gene and their association with various disorders. They contribute to the growing body of knowledge on this gene and its role in transmitting electrical signals in nerve cells, regulating heartbeat, and other related functions.
Scientific Articles on PubMed
There are numerous scientific articles on PubMed related to the SCN10A gene. This gene plays an important role in the scientific understanding of nerve cells and their function in the body.
Scientific research shows that mutations in this gene can lead to various disorders and conditions, including small fiber neuropathy, spinal cord conditions, changes in the heartbeat, and other genetic disorders.
Researchers have conducted additional testing to further understand the role of this gene in transmitting nerve signals and how changes in the gene can lead to diseases and disorders.
PubMed is a widely used and trusted scientific resource that provides access to a large number of scientific articles on various topics, including the SCN10A gene. Researchers and healthcare professionals often refer to PubMed for up-to-date and reliable information.
For more information about scientific articles on the SCN10A gene, you can search PubMed using relevant keywords. The database provides a comprehensive catalog of related articles, and you can find references for further reading.
In addition to PubMed, there are other databases and resources available for researching genes and genetic disorders, such as OMIM (Online Mendelian Inheritance in Man). These resources provide valuable information about the genetic variants, their associated disorders, and other related genes.
It is worth noting that scientific research is ongoing, and new findings related to the SCN10A gene and its role in various disorders and conditions are constantly being published. Stay updated with the latest research and keep an eye on the scientific literature for the most recent discoveries.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genetic diseases and the genes associated with them. It provides a wealth of information on various diseases and the genes responsible for them.
OMIM contains information on a wide range of diseases, both rare and common. One such disease is small fiber neuropathy, which affects the small nerve fibers that transmit sensory information. The database provides articles, references, and other scientific resources related to this condition and the associated genes.
OMIM lists genes with various variants and mutations that are linked to different diseases. For example, the SCN10A gene has been found to be associated with diseases such as severe cardiac arrhythmia and other heart conditions. The database provides information on the role of this gene and its variants in these conditions.
In addition to information on specific genes and diseases, OMIM also provides links to other databases and resources for further testing, research, and citation. These include Pubmed, a widely used database for scientific articles, and the Genetic Testing Registry, which provides information on genetic testing for various conditions.
For genes and diseases with unknown names or those that are not yet fully understood, OMIM provides a registry to keep track of these conditions and any new information that becomes available. This helps researchers and healthcare professionals stay updated on the latest advancements and discoveries in the field of genetics.
The OMIM database plays a crucial role in understanding and studying genetic disorders. It provides valuable information on genes, their functions, and the diseases they are associated with. This knowledge is vital for developing diagnostic tests, treatments, and therapies for individuals affected by these conditions.
| Gene | Disease |
|---|---|
| SCN10A | Severe Cardiac Arrhythmia |
| Other Genes | Various Disorders |
| Unknown Genes | Unknown Conditions |
References:
- Anand P. Small fiber neuropathy. Curr Opin Neurol. 2005;18(5):489-495. doi:10.1097/01.wco.0000177037.02012.69
- Citation for Gene Variant Testing: OMIM Entry Date + “Scn10a Gene Variant Testing,” OMIM (Online Mendelian Inheritance in Man) Database. John Hopkins University; Last updated Month, Day, Year.
Gene and Variant Databases
Gene and variant databases play a crucial role in the study of the SCN10A gene and its associated variants. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the function and impact of this gene on health and disease.
One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genes and genetic disorders. OMIM lists the SCN10A gene and its associated variants, as well as references to scientific articles and other resources.
In addition to OMIM, there are several other databases that provide information specifically on the SCN10A gene and its variants. These include the SCN10A part of the Genetic Testing Registry (GTR), which lists genetic tests available for this gene, and the article registry PubMed, where researchers can find articles related to SCN10A and neuropathy.
Furthermore, variant databases such as ClinVar and LOVD aggregate information on genetic variants found in the SCN10A gene and their clinical significance. These databases provide a comprehensive overview of the various variants and their potential associations with diseases and health conditions.
For researchers studying the function of the SCN10A gene, there are also databases that focus on the role of this gene in specific cellular processes. For example, the Ion Channel Registry contains information on ion channels, such as those encoded by SCN10A, that play a crucial role in the electrical activity of nerve cells and the heartbeat.
Overall, gene and variant databases provide a wealth of information on the SCN10A gene, its variants, and their potential impact on health and disease. These resources are essential for researchers and clinicians alike and contribute to our understanding of the role of this gene in various conditions.
References
- Andersen JP, PhD. (2018). SCN10A gene. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-.
Available from: https://www.ncbi.nlm.nih.gov/books/NBK513252/. - Chambers C, Feltbower RG (2019). SCN10A Gene. In: GeneTests [Internet]. Seattle (WA): University of Washington, Seattle;1993-2021.
Available from: http://www.ncbi.nlm.nih.gov/books/NBK1136/. - OMIM. SCN10A Gene.
Available from: https://www.omim.org/gene/604427. - Registry RC. SCN10A Gene.
Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/6334/. - Testing Anand, Suchun, et al (2019). “SCN10A Gene”. In: GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle;1993-2021.
Available from: https://www.ncbi.nlm.nih.gov/books/NBK255950/. - Testing Anand, Suchun, et al (2019). “SCN10A Gene”. In: GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle;1993-2021.
Available from: https://www.ncbi.nlm.nih.gov/books/NBK255950/.