TSC2 Gene: Functions, Mutations and its Role in Tuberous Sclerosis

The TSC2 gene is a gene that is associated with a condition called tuberous sclerosis complex (TSC). TSC is a genetic disorder that affects various organs in the body and can cause a wide range of symptoms.

There are a number of databases and resources available that provide information on genetic conditions, including the TSC2 gene. These resources often contain information on the different variants of the gene, as well as information on how these variants can impact people’s health.

One such resource is the Tuberous Sclerosis Complex Variants Database, which provides a catalog of variants in the TSC2 gene. This database includes information on the functional changes that certain variants can cause in cells, as well as references to scientific articles and other resources that provide more information on these variants.

The Tuberous Sclerosis Complex Registry is another resource that provides information on TSC-related conditions. This registry collects data on people with TSC and their families, and helps to develop a better understanding of the disease and its impact on people’s lives.

In addition to these resources, there are also genetic testing laboratories that offer tests specifically for TSC and other related conditions. These labs can provide information on the specific variant in the TSC2 gene that a person may have, as well as information on the implications of this variant for their health.

In summary, the TSC2 gene is an important gene that is associated with tuberous sclerosis complex and other related conditions. There are a variety of resources available that provide information on the gene and its variants, as well as resources for testing and further research on these conditions.

Fears over not being able to afford health insurance or medical care are among the top reasons why Americans are delaying retirement. From 2000 to 2016, the number of Americans 65 and older working full-time or part-time rose by six% to include almost 9 million people, according to the Pew Research Center.

Genetic changes in the TSC2 gene can lead to various health conditions. The TSC2 gene, also known as the tuberous sclerosis complex 2 gene, provides instructions for making a protein that helps regulate cell growth and division. When there is a variant in this gene, certain cells may develop abnormally, leading to the condition known as tuberous sclerosis.

Tuberous sclerosis is a rare genetic disorder characterized by the growth of noncancerous tumors in multiple organs of the body. These tumors can affect various parts of the body, including the brain, skin, kidneys, heart, and lungs. The signs and symptoms of tuberous sclerosis can vary widely between individuals and can range from mild to severe.

Several resources provide information on the health conditions related to changes in the TSC2 gene. One such resource is PubMed, a database of scientific articles. By searching for “TSC2 gene” or “tuberous sclerosis complex 2 gene,” you can find references to research articles that discuss the genetic changes and their associated health conditions.

In addition to PubMed, databases such as OMIM (Online Mendelian Inheritance in Man) and the Tuberous Sclerosis Complex Variant Database can provide more information on the specific variants of the TSC2 gene and their connection to tuberous sclerosis and other related conditions.

Testing for genetic changes in the TSC2 gene can be done through various genetic testing methods. Complex tests can be performed to analyze the entire gene, or specific regions of interest, for variants. Seattle Children’s Hospital provides information on genetic testing for tuberous sclerosis and related conditions on their website.

Other genes have also been implicated in the development of tuberous sclerosis and related conditions. It is important to consider these other genes and their potential interactions with the TSC2 gene when studying and diagnosing these conditions.

The registry of the Tuberous Sclerosis Alliance provides a comprehensive list of clinics and specialists who are knowledgeable about tuberous sclerosis and can provide further information and support for individuals and families affected by the condition.

In conclusion, genetic changes in the TSC2 gene can lead to various health conditions, including tuberous sclerosis. Multiple databases and resources provide information on the genetic changes, associated health conditions, and testing options. Collaborating with healthcare professionals who specialize in tuberous sclerosis can provide additional support and guidance for people with these conditions.

Lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a rare genetic condition that affects the lungs and other organs. It is caused by changes in the TSC2 gene, which is part of the Tuberous Sclerosis Complex (TSC) pathway.

LAM is one of the conditions related to TSC2 gene mutations. Other TSC2-related conditions include Tuberous Sclerosis Complex (TSC) and certain tumor types. These conditions are caused by different genetic changes in the TSC2 gene or other genes in the TSC pathway.

Tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a genetic disorder that affects various organs and can cause a wide range of symptoms and complications. It is characterized by the development of non-cancerous tumors, called hamartomas, in different parts of the body. TSC is caused by mutations in the TSC1 or TSC2 gene.

The TSC1 gene provides instructions for making a protein called hamartin, while the TSC2 gene provides instructions for making a protein called tuberin. These proteins work together to regulate cell growth and division. Mutations in either gene lead to the production of non-functional proteins, disrupting the normal functioning of cells and causing the development of tumors.

TSC is considered a rare disease, with an estimated prevalence of about 1 in 6,000 to 1 in 10,000 people. It can affect individuals of all ethnic backgrounds and both genders.

Diagnosing TSC often involves a combination of clinical evaluation, imaging tests, and genetic testing. Certain signs and symptoms, such as skin abnormalities, brain tumors, and kidney cysts, can indicate the presence of TSC. Genetic testing can confirm the diagnosis by identifying changes in the TSC1 or TSC2 genes.

There are several databases and resources available for individuals and healthcare professionals seeking more information on TSC. These include the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic conditions, and the Tuberous Sclerosis Knowledge Base, which contains a catalog of TSC-related genes and variants.

For scientific articles and research studies on TSC, PubMed is a valuable resource. PubMed is a free online database of scientific articles from various fields, including genetics and medicine. Searching for keywords such as “tuberous sclerosis complex” or “TSC2 gene” can provide a wealth of information on the latest research and findings in the field.

In addition, there are organizations and registries specifically dedicated to TSC. The Tuberous Sclerosis Alliance and the Lymphangioleiomyomatosis (LAM) Foundation provide support, resources, and information for individuals and families affected by TSC and related conditions. The TSC Natural History Database collects data on the natural history and progression of TSC to help researchers develop better treatments and therapies for the condition.

In summary, tuberous sclerosis complex is a genetic disorder characterized by the development of non-cancerous tumors in various organs. It is caused by mutations in the TSC1 or TSC2 gene, which lead to functional changes in cells. Diagnosis of TSC involves clinical evaluation, imaging tests, and genetic testing. There are numerous databases, articles, and resources available for individuals looking for more information on TSC and related conditions.

Other Names for This Gene

The TSC2 gene also goes by other names in various resources and databases, including:

OMIM: This gene is listed under the name “TSC2” in the Online Mendelian Inheritance in Man (OMIM) database.
TSC2-Related Sclerosis: The TSC2 gene is associated with a condition known as TSC2-related sclerosis.
Registry of Genes and Disease: The TSC2 gene is included in the Registry of Genes and Disease (RGD) database under its official name.
References in Scientific Articles: Articles in PubMed, a catalog of published scientific research, often refer to this gene using its official name.
Other Names: Other names and variants for this gene can be found in various databases and resources related to tuberous sclerosis complex (TSC) and other related conditions.

For additional information on genetic tests, resources, and other related conditions, it is recommended to consult various databases and scientific research articles that focus on TSC and its related genes.

Additional Information Resources

The TSC2 gene is a genetic variant that affects the health of individuals. This gene is associated with a condition called tuberous sclerosis complex, which can lead to the development of tumors in various organs. For more information about the TSC2 gene and related conditions, the following resources may be helpful:

Genetic Testing Registry (GTR): This database provides information about genetic tests for TSC2-related conditions and other related genetic variants.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the TSC2 gene and its related conditions.
PubMed: This scientific database contains a vast collection of articles related to the TSC2 gene, tuberous sclerosis complex, and other related topics. It is a valuable resource for those seeking in-depth research on the subject.
The LAM Foundation: This organization focuses specifically on lymphangioleiomyomatosis (LAM), a condition caused by TSC2 gene mutations. Their website provides information and resources for individuals with LAM and their families.
Seattle Children’s Tuberous Sclerosis Program: This program at the Seattle Children’s Hospital specializes in diagnosing and treating tuberous sclerosis complex. Their website offers information and resources for individuals with the condition.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a scientific database that provides information about genetic tests for various conditions, including tuberous sclerosis complex (TSC). TSC is a genetic disorder characterized by the development of noncancerous tumors in various organs throughout the body. Mutations in the TSC2 gene are known to be associated with this condition.

The registry lists tests that are available for the TSC2 gene and related genes. These tests can detect changes or variants in the TSC2 gene that may be associated with the development of TSC and related conditions, such as lymphangioleiomyomatosis.

The information provided in the registry includes the names of the tests, the laboratories that offer them, and references to scientific articles and databases where additional information about the tests can be found. These references may include studies that have investigated the functional effects of specific TSC2 gene variants or their association with TSC and other related conditions.

The registry also provides information about other genetic tests that are available for TSC and related conditions. These tests may target other genes or variants that are known to be associated with the development of these diseases, providing a comprehensive approach to genetic testing for TSC and related conditions.

Some of the resources referenced in the registry include the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about genetic conditions and their associated genes, and the PubMed database, which contains a vast collection of scientific articles related to genetics and medicine.

In summary, the Genetic Testing Registry is a valuable resource for individuals and healthcare professionals seeking information about genetic tests for TSC and related conditions. It provides a comprehensive list of tests available for the TSC2 gene and related genes, along with references to scientific articles and databases where additional information can be found. This information can help guide decisions about genetic testing and assist in the understanding and management of TSC and related conditions.

Scientific Articles on PubMed

PubMed is a widely used database that stores scientific articles related to various health conditions. The TSC2 gene is one of the genes listed on PubMed. This gene is associated with tuberous sclerosis complex, a genetic disorder that can cause tumors to develop in different organs of the body.

There are several scientific articles on PubMed that provide information on TSC2-related conditions such as tuberous sclerosis complex and lymphangioleiomyomatosis. These articles describe the genetic changes and functional variants of the TSC2 gene that can lead to these diseases.

For additional resources on TSC2 and related conditions, there are databases available such as OMIM (Online Mendelian Inheritance in Man) and the Tuberous Sclerosis International Database. These databases provide comprehensive information on the TSC2 gene, its variants, and associated diseases.

People who have a family history of tuberous sclerosis complex or related conditions may undergo genetic testing to identify any changes or variants in the TSC2 gene. These tests can help in diagnosing the condition and determining the risk for developing tumors or other health issues.

The Seattle Tuberous Sclerosis Program is a registry that collects information on individuals with tuberous sclerosis complex. This registry is a valuable resource for researchers and clinicians who study and treat this condition.

Scientific articles on PubMed provide important references for researchers and healthcare practitioners who work on understanding and managing TSC2-related conditions. These articles contribute to the knowledge and advancements in the field of genetics and health.

In conclusion, PubMed is a valuable resource for accessing scientific articles on the TSC2 gene and related conditions. Researchers and clinicians can benefit from the information available on PubMed to better understand the genetic and functional aspects of TSC2-related diseases.

Catalog of Genes and Diseases from OMIM

This catalog provides a comprehensive list of genes and diseases related to the TSC2 gene, which is associated with the development of tumors and certain health conditions.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on the functional characteristics of genes and their related diseases. The TSC2 gene, also known as tuberous sclerosis complex 2 gene, is listed in this catalog along with other related genes.

In the context of tuberous sclerosis, the TSC2 gene is associated with the development of tuberous sclerosis complex, a genetic disorder that causes the formation of benign tumors in various organs. It is also associated with other conditions such as lymphangioleiomyomatosis.

The catalog includes information on genetic changes associated with the TSC2 gene, as well as variant names, references, and scientific articles. It provides a comprehensive list of diseases and conditions related to TSC2, including additional resources and databases for further information and testing.

The Tuberous Sclerosis Complex 2 Genetic Alliance is a registry for people with TSC2-related conditions, providing support and information on genetic testing and related health issues.

In addition to the TSC2 gene, this catalog also lists other genes involved in the tuberous sclerosis complex, as well as genetic variants and related scientific articles from PubMed.

The OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in the genetics and diseases associated with the TSC2 gene and tuberous sclerosis complex.

Key Features of the Catalog:
Features	Description
Genes	List of genes related to the TSC2 gene and the tuberous sclerosis complex
Diseases	Comprehensive list of diseases and conditions associated with the TSC2 gene
References	References to scientific articles and publications related to the TSC2 gene and its associated diseases
Resources	Additional resources and databases for further information and testing

Overall, the OMIM catalog provides a valuable compilation of information on the TSC2 gene and its related diseases, serving as a valuable resource for researchers, healthcare professionals, and individuals interested in the understanding and management of tuberous sclerosis complex and other associated conditions.

Gene and Variant Databases

There are several databases available that provide information on genes and variants related to the TSC2 gene and associated conditions. These databases collect and organize data on genetic changes, disease associations, and functional tests for specific genes. They serve as important resources for researchers, healthcare providers, and individuals interested in this field.

One widely used database is OMIM, which stands for Online Mendelian Inheritance in Man. OMIM provides detailed information on the relationships between genes and diseases. It provides comprehensive summaries of genetic conditions, including Tuberous Sclerosis Complex (TSC) and its associated diseases such as lymphangioleiomyomatosis (LAM).

Another important database is the Tuberous Sclerosis Complex Variant Database, which is maintained by the Seattle TSC2 Registry. This database catalogs the genetic variants identified in people with TSC and related conditions. It provides detailed information on the specific changes in the TSC2 gene and their association with different clinical manifestations.

In addition to these databases, there are also other resources available for gathering information on TSC2-related genes and variants. PubMed, a scientific literature database, can be searched for articles and references related to TSC and the TSC2 gene. This is a valuable resource for accessing the latest research studies and scientific findings on this topic.

Genetic testing laboratories also maintain their own variant databases. These databases contain information on the genetic variants identified in individuals who have been tested for TSC and related conditions. They provide information on the functional significance of these variants and their association with disease onset, severity, and other factors.

Overall, these gene and variant databases play a crucial role in advancing our understanding of TSC and related conditions. They provide valuable information on genetic changes, disease associations, and functional tests that help researchers and healthcare providers make informed decisions regarding diagnosis, treatment, and management strategies for individuals with TSC and related conditions.

References

Seattle Children’s Tuberous Sclerosis Program – Provides information on the TSC2 gene and related conditions, as well as resources for genetic testing and support. Available at: https://www.seattlechildrens.org/clinics/tuberous-sclerosis/genes/tsc2/
OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders, including information on the TSC2 gene and its associated conditions. Available at: https://www.omim.org/
PubMed – A database of scientific articles, including research on the TSC2 gene and its function in tuberous sclerosis. Available at: https://pubmed.ncbi.nlm.nih.gov/
Tuberous Sclerosis Complex Genetic Database – A resource for genetic testing and information on TSC2-related conditions. Available at: http://www.genetests.org/
GeneCards – A database of human genes, including information on the TSC2 gene and its variants. Available at: https://www.genecards.org/
Tuberous Sclerosis Alliance – Provides information and support for people with tuberous sclerosis and their families. Available at: https://www.tsalliance.org/
National Institutes of Health Genetics Home Reference – Provides information on genetic conditions and the TSC2 gene. Available at: https://ghr.nlm.nih.gov/gene/TSC2
Other Names for TSC2 Gene – A list of alternative names for the TSC2 gene. Available at: https://www.ncbi.nlm.nih.gov/gene/7249/names/

Lymphangioleiomyomatosis

Tuberous sclerosis complex

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

ITGA6 gene

MTHFR gene

Camurati-Engelmann disease

Health Conditions Related to Genetic Changes

Lymphangioleiomyomatosis

Tuberous sclerosis complex

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

Related Posts