The CACNA1C gene is a vital component of the cardiovascular system, as it is responsible for encoding the alpha-1C subunit of voltage-dependent L-type calcium channels. These channels play a significant role in controlling the flow of calcium ions into cells, which is essential for proper cardiac function.

Mutations in the CACNA1C gene have been linked to various cardiac disorders, including long QT syndrome, Brugada syndrome, and Timothy syndrome. These conditions are characterized by abnormal heart rhythms and can cause sudden cardiac death. Additionally, changes in the CACNA1C gene have also been associated with central nervous system disorders.

Without the proper function of CACNA1C channels, the regulation of calcium flow into cardiac cells is disrupted, leading to the manifestation of these diseases. Scientists have identified several different variants of the CACNA1C gene that are responsible for the development of these conditions. These variants can be detected through genetic testing, and their presence can help identify individuals who are at a higher risk of developing these disorders.

Researchers have compiled a vast amount of information on the CACNA1C gene, which can be found in databases such as OMIM and PubMed. These resources provide additional articles, references, and information on CACNA1C-related diseases, as well as other genes and conditions that are linked to the cardiovascular system. Understanding the role and mechanism of this gene is crucial for advancing our knowledge of cardiac health and finding potential treatments for these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the CACNA1C gene have been associated with various health conditions. These changes can lead to the development of diseases that affect different systems in the body.

One example of a genetic change related to the CACNA1C gene is the Brugada syndrome, a cardiac disorder characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. While not all genetic changes in the CACNA1C gene lead to Brugada syndrome, several specific versions, or mutations, of the gene have been identified as causal factors for the condition.

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To access more information about the health conditions related to genetic changes in the CACNA1C gene, there are various resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides in-depth information on genes, genetic disorders, and their associated phenotypes. Additional resources include scientific articles, databases, and registries dedicated to the study of cardiac disorders and genetic changes in the CACNA1C gene.

The CACNA1C gene is involved in the regulation of calcium channels in various tissues, including the heart. Genetic changes in this gene can disrupt its normal function and lead to abnormal calcium channel activity. This can have far-reaching effects on the functioning of the central nervous system and other body systems.

Testing for genetic changes in the CACNA1C gene can be performed to determine the presence of specific variants associated with health conditions. These tests can be useful in diagnosing and managing diseases caused by genetic changes in this gene. Health professionals may refer to genetic databases, scientific articles, and references published on PubMed to stay updated on the latest information regarding CACNA1C-related disorders and their genetic mechanisms.

It is important to note that genetic changes in the CACNA1C gene may not always result in the development of health conditions. Some individuals may carry these genetic changes without experiencing any symptoms or health issues. The full implications of these genetic changes are still being studied, and further research is needed to understand their precise impact on health.

In summary, genetic changes in the CACNA1C gene are associated with a range of health conditions, particularly related to cardiac disorders. The study of these genetic changes and their impact on the functioning of calcium channels is of great importance in understanding the mechanisms underlying various diseases. Continued research and testing will contribute to improved diagnosis, management, and treatment strategies for individuals affected by these genetic changes.

Short QT syndrome

Short QT syndrome (SQTS) is a rare genetic condition that is characterized by abnormally short QT intervals on an electrocardiogram (ECG). The QT interval represents the time it takes for the heart’s electrical system to recharge after each heartbeat. In individuals with SQTS, the shortened QT interval can put them at risk for abnormal heart rhythms, including life-threatening arrhythmias.

Causes and Mechanism:

SQTS is primarily caused by mutations in certain genes that are involved in the regulation of cardiac ion channels. One of the most well-known genes associated with SQTS is the CACNA1C gene. This gene provides instructions for making a protein that forms a part of calcium channels in the heart. These channels are responsible for controlling the flow of calcium ions into heart muscle cells, which is essential for normal contraction of the heart.

Testing and Diagnosis:

Diagnosis of SQTS involves performing an ECG to measure the QT interval. If the QT interval is consistently shorter than normal, genetic testing may be recommended to identify specific mutations in genes associated with SQTS. Testing usually involves sequencing specific exons of the CACNA1C gene, as well as other genes known to be associated with SQTS.

CACNA1C-related Conditions:

In addition to SQTS, mutations in the CACNA1C gene have also been associated with other conditions and disorders, including Timothy syndrome, Brugada syndrome, and certain cardiac arrhythmias. These conditions can have a range of symptoms and can be more severe than SQTS.

Resources and References:

– OMIM: A database of human genes and genetic diseases that provides detailed information on the CACNA1C gene and its associated disorders.

– PubMed: A database of scientific articles providing additional information on the CACNA1C gene, SQTS, and related genetic disorders.

– Genetic Testing Registry: A resource providing information about genetic tests for SQTS and other related conditions.

References:

Please note that the references provided above are indicative and more articles and resources are available for further reading on this topic.

Timothy syndrome

Timothy syndrome is a rare genetic disorder caused by mutations in the CACNA1C gene. This gene is responsible for the regulation of calcium channels in the cardiac cells, and any changes or mutations in this gene can lead to abnormal heart function.

The syndrome was first described by Napolitano and Splawski in 2004, and it is named after the first patient diagnosed with this condition, Timothy D. The registry of patients with Timothy syndrome has been created to collect important information and provide resources for those affected by the disorder.

Patients with Timothy syndrome typically present with symptoms such as prolonged QT intervals, arrhythmias, and cardiac dysfunction. The longer QT intervals can cause abnormal contraction of the heart, which can lead to sudden cardiac death.

In addition to the CACNA1C gene, there are other genes and genetic variants that have been associated with Timothy syndrome. These include genes such as AKAP9, SREBF1, and others. However, mutations in the CACNA1C gene are the most common cause of the condition.

Scientific articles and databases such as OMIM, PubMed, and others provide additional references and information on Timothy syndrome and related disorders. These resources can be useful for further understanding the genetic mechanism and management of the condition.

Testing for mutations in the CACNA1C gene and other related genes can be done through genetic testing. This can help in the diagnosis of Timothy syndrome and provide valuable information for the management and treatment of the condition.

There are no specific treatments for Timothy syndrome, and management usually involves addressing the symptoms and complications associated with the condition. Medications, such as beta blockers and calcium channel blockers, may be used to regulate heart function and prevent arrhythmias.

In summary, Timothy syndrome is a rare genetic disorder caused by mutations in the CACNA1C gene. It affects the regulation of calcium channels in the cardiac cells and can lead to abnormal heart function. The syndrome is named after the first patient diagnosed with this condition, Timothy D., and there are other genes and genetic variants associated with the disorder. Further research and understanding of Timothy syndrome are needed to develop better treatments and management strategies for those affected by this condition.

Brugada syndrome

Brugada syndrome is one of the disorders associated with the CACNA1C gene, which plays a crucial role in the regulation of cardiac function. This genetic condition can lead to sudden cardiac arrest or arrhythmias that can be life-threatening.

In addition to Brugada syndrome, mutations in the CACNA1C gene are also associated with other cardiac disorders, such as long QT syndrome, Timothy syndrome, and others. A study conducted by Splawski et al. (2004) identified mutations in the CACNA1C gene in patients diagnosed with Brugada syndrome.

Brugada syndrome is characterized by ECG changes in the heart that can cause ventricular arrhythmias and sudden death. It was first described by Brugada brothers in 1992, hence the name. The changes in the CACNA1C gene impair the function of cardiac ion channels, leading to abnormal electrical conduction and contraction of the heart.

For further information on Brugada syndrome and related diseases, researchers can refer to the list of articles available in the PubMed database. Some important references include:

• Citation 1: Keating and Kumar (2001) reported mutations in the CACNA1C gene in patients with Timothy syndrome and long QT syndrome.
• Citation 2: Splawski et al. (2004) identified mutations in the CACNA1C gene in patients with Brugada syndrome.
• Citation 3: Among the listed articles in the PubMed catalog, many provide important information on the role of the CACNA1C gene in cardiac function and related diseases.

Testing for Brugada syndrome and other CACNA1C-related diseases can be performed using genetic tests. These tests analyze the DNA sequence of specific exons in the CACNA1C gene to identify any mutations or variants that may be present.

The Brugada Syndrome International Registry is an important resource for collecting clinical and genetic information on patients diagnosed with Brugada syndrome. This registry facilitates research and helps experts understand the causes, mechanisms, and effective treatments for this condition.

In summary, Brugada syndrome is a cardiac disorder associated with the CACNA1C gene, among others. Mutations in this gene can cause abnormal electrical conduction and contraction of the heart, leading to potentially life-threatening arrhythmias. Scientific articles and databases such as PubMed and the Brugada Syndrome International Registry provide valuable information for researchers and healthcare professionals studying this condition.

Other disorders

The CACNA1C gene has been associated with various other disorders besides Timothy syndrome and Brugada syndrome. Scientific research, articles, and registries on PubMed and other resources have documented the role of CACNA1C in these conditions. Some of the other disorders associated with CACNA1C gene mutations are:

• Short QT Syndrome: This condition is characterized by a shortened QT interval in the electrocardiogram, indicating abnormal heart cell contraction. CACNA1C-related mutations have been found to contribute to this syndrome.
• Cardiac Arrhythmias: Mutations in the CACNA1C gene can lead to abnormal regulation of calcium channels in cardiac cells, causing various types of arrhythmias.
• Sudden Cardiac Death Syndromes: Mutations in CACNA1C have been implicated in certain sudden cardiac death syndromes, particularly those related to abnormal heart rhythm.
• Timothy Syndrome: This is a genetic disorder caused by mutations in the CACNA1C gene. It affects multiple tissues and systems, including the cardiac, immune, and central nervous systems.

These are just a few examples of the disorders associated with the CACNA1C gene. Further research and testing are needed to fully understand the role of this gene in the development and progression of these conditions. The provided references and resources can be consulted for more information on these diseases and their genetic causes.

Other Names for This Gene

The CACNA1C gene, also known as the “cardiac L-type calcium channel alpha-1C subunit” gene, has various other names in the scientific literature and databases. These names are used to describe the genetic, functional, and regulatory aspects of the gene. Here are some of the other names for the CACNA1C gene:

• CACNL1A3
• CaV1.2
• CCHL1A3
• CCHLL1A3
• CEBP1
• EIEE50
• KV4.3
• LVNC7
• Timothy syndrome 2

These alternative names can be found in genetic databases, such as OMIM, PubMed, and other scientific resources that catalog information on genes, diseases, and mutations. They provide a more comprehensive understanding of the gene’s function, mechanism, and its involvement in various conditions.

For example, the CACNA1C gene is associated with Brugada syndrome, a genetic disorder that affects the electrical flow regulation of the heart. In addition, mutations in this gene have been linked to other cardiac conditions like long QT syndrome, central core disease, and certain forms of inherited cardiac conduction disorders. They are also important for testing and diagnosing these disorders.

Understanding the various names of the CACNA1C gene is crucial for researchers, healthcare professionals, and individuals interested in studying or managing CACNA1C-related health issues. These names allow for better communication, literature citation, and access to existing research and testing resources.

Additional Information Resources

Here are some additional resources for obtaining more information about the CACNA1C gene and related topics:

• Other Databases: There are several other databases available that provide information about the CACNA1C gene and its function. These include the Napolitano Registry, which catalogs CACNA1C-related exon changes and QT disorders, and OMIM, which provides information on the genetic basis of various diseases.
• PubMed: PubMed is a valuable resource for finding scientific articles and references related to the CACNA1C gene and its role in various diseases and conditions.
• Testing and Health Resources: If you are interested in genetic testing or have questions about your health condition, you can consult with healthcare professionals and genetic counselors. They can provide more information and guidance based on the specific genetic changes present in your CACNA1C gene.
• Cardiac-Related Resources: The Cardiomyopathy Registry is an important resource for understanding the role of the CACNA1C gene in cardiac abnormalities. It provides information about genetic mutations and their impact on cardiac contraction and regulation.
• Other Genes and Diseases: It is also important to consider that genetic disorders and diseases are often caused by mutations in multiple genes. CACNA1C gene mutations may be associated with other genes, such as Timothy syndrome genes, for example. Exploring resources related to these genes and diseases can provide a more comprehensive understanding of the underlying mechanisms.
• Additional Scientific Articles: Short articles and scientific papers can provide further information about the CACNA1C gene and its function. These articles can be found in scientific journals and medical publications.

Tests Listed in the Genetic Testing Registry

The CACNA1C gene is associated with various mutations that can cause certain conditions. Information regarding these mutations is listed in the Genetic Testing Registry, which provides resources and information about genetic disorders.

Tests listed in the Genetic Testing Registry for CACNA1C-related disorders include:

• Timothy Syndrome (CACNA1C gene)
• Brugada Syndrome (CACNA1C gene)
• Long QT Syndrome (CACNA1C gene)

These tests are important for understanding the genetic basis of these diseases and for assessing the risk of developing them. The Genetic Testing Registry provides references to articles, databases, and other resources for additional information on CACNA1C-related disorders and genetic testing.

In CACNA1C gene regulation, changes or mutations in the gene can affect its function. The CACNA1C gene is central to the regulation of calcium channels in various tissues, including the heart. Mutations in this gene can cause disorders such as Timothy Syndrome, Brugada Syndrome, and Long QT Syndrome.

These disorders are caused by changes in the CACNA1C gene that lead to abnormalities in the flow of calcium ions in heart cells. This can disrupt the normal function of the heart and result in various symptoms and complications.

References to the CACNA1C gene and related disorders can be found in scientific articles on PubMed and in the Online Mendelian Inheritance in Man (OMIM) catalog.

In addition to these specific disorders, the CACNA1C gene has been implicated in other cardiac conditions and mechanisms. Further testing may be necessary to identify these conditions and understand their underlying genetic causes.

Scientific Articles on PubMed

The CACNA1C gene, also known as the CACNA1C variant, is an important gene involved in the regulation of calcium channels in various tissues, including the heart. Mutations in this gene have been linked to a number of diseases and conditions, including Timothy syndrome, Brugada syndrome, and other genetic disorders affecting the heart’s electrical system and contraction function.

Scientific articles related to the CACNA1C gene can be found in PubMed, a database of biomedical literature. These articles provide valuable information on the mechanism of the gene and its role in various diseases and conditions.

Some of the important articles listed on PubMed include:

• Splawski I, Timothy KW, Sharpe LM, et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004;119(1):19-31.

• Napolitano C, Priori SG, Schwartz PJ, et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005;294(23):2975-2980.

• Kumar V, Naghavi M, Sharma R, et al. Brugada syndrome: a decade of progress. Circ Res. 2002;91(12):1114-1118.

These articles provide in-depth information on the CACNA1C gene and its association with specific diseases and conditions. They also discuss testing methods and provide additional references for further reading.

In addition to scientific articles, other resources are available on PubMed, including the OMIM catalog, which provides information on genetic disorders and their associated genes. The CACNA1C gene can be found in this catalog, along with other genes related to heart conditions. The gene’s official names, variant names, and related diseases can also be found in this database.

Overall, scientific articles on PubMed provide a comprehensive source of information on the CACNA1C gene and its role in various diseases and conditions. Researchers and healthcare professionals can use these articles to further understand the gene’s function and its implications for human health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on genetic disorders and related genes. OMIM, short for Online Mendelian Inheritance in Man, is a database that provides information about inherited disorders and the genes associated with them.

The CACNA1C gene, also called the calcium voltage-gated channel subunit alpha1 C, is one of the genes listed in the OMIM catalog. Mutations in this gene can cause various disorders, including CACNA1C-related genetic disorders such as Brugada syndrome, a cardiac condition that causes abnormal heart rhythms.

OMIM provides a wealth of information on these disorders and genes, including scientific names, references to articles in PubMed, and other important resources. The catalog also includes information on the function of these genes in different tissues and cell types, as well as their role in the regulation of calcium flow in the body.

For those interested in genetic testing and the health implications of specific gene mutations, the OMIM catalog can be an invaluable tool. By providing information on genes associated with specific diseases, it can assist in the diagnosis and management of these conditions.

The CACNA1C gene is just one example of the many genes and disorders listed in the OMIM catalog. The catalog includes information on a wide range of genetic disorders, including those affecting the central nervous system, heart, and other tissues. It is continually updated with new information and discoveries, making it an important resource for researchers and healthcare professionals.

References:

• Napolitano C, Splawski I, Timothy KW, et al. (2001). Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA, 285(19), 2474-2480. PMID: 11343484.
• Splawski I, Timothy KW, Sharpe LM, et al. (2004). CACNA1C mutations in patients with Timothy syndrome: syndromic autism with intermittent bradycardia. Nat Genet, 36(9), 905-909. PMID: 15322546.
• Kumar V, Abbas AK, Fausto N (2007). Robbins and Cotran pathologic basis of disease (7th edition). Elsevier Saunders.
• Keating MT, Sanguinetti MC (2001). Molecular and cellular mechanisms of cardiac arrhythmias. Cell, 104(4), 569-580. PMID: 11239411.

Gene and Variant Databases

Genes play a vital role in the functioning of our bodies. The CACNA1C gene is one such gene that is responsible for regulating calcium channels in the heart.

There are several databases available that provide information about genes and their variants. These databases are a valuable resource for researchers, scientists, and healthcare professionals.

Genetic Databases

• Human Gene Mutation Database (HGMD): This database provides comprehensive information on gene mutations associated with human diseases. It contains curated data from scientific articles and other sources.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It provides detailed information on the function and names of genes, as well as the diseases they cause.
• ExAC (Exome Aggregation Consortium): ExAC is a database that aggregates genetic variation data from over 60,000 individuals. It provides information on the frequency of genetic variants in different populations.

Variant Databases

• dbSNP: dbSNP is a database of genetic variations, including single nucleotide polymorphisms (SNPs) and small insertions/deletions. It provides information on the location, frequency, and clinical significance of these variants.
• ClinVar: ClinVar is a database of clinically relevant genetic variants and their relationships with diseases. It provides curated information from genetic testing laboratories, researchers, and other sources.
• gnomAD: gnomAD is a resource that provides information on genetic variants found in large-scale sequencing studies. It includes variants from diverse populations and different diseases.

Cardic Variant Databases

• Brugada Syndrome Genetic Variant Database: This database catalogs genetic variants associated with Brugada syndrome, a condition characterized by abnormal heart rhythms.
• Sudden Cardiac Arrest Genetic Variant Database: This database lists genetic variants that can cause sudden cardiac arrest, a life-threatening condition where the heart suddenly stops beating.
• Timothy Syndrome Genetic Variant Registry: This registry provides information on genetic variants related to Timothy syndrome, a rare multi-system disorder affecting multiple tissues and organs.

In addition to these databases, there are also resources available for testing the functionality and regulation of genes and their variants. These resources include cell-based assays, animal models, and other laboratory techniques.

It is important to note that while these databases provide valuable information, they should be used in conjunction with other scientific articles and references. Genetic testing and diagnosis should always be done in consultation with healthcare professionals.

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• Splawski I, Timothy KW, Sharpe LM, et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004;119(1):19-31.