The TNNT3 gene, also known as the troponin T3 gene, is a gene that is found on chromosome 11. It is involved in the production of a protein called troponin T3, which is found in skeletal muscles. Troponin T3 plays a crucial role in the contraction of muscles, and mutations in the TNNT3 gene can lead to skeletal muscle contractures and related conditions.
Testing for mutations in the TNNT3 gene can be done to diagnose certain muscular conditions, such as Sheldon-Hall syndrome and other thin filament-related diseases. This testing can be done through genetic testing laboratories or through the use of databases like OMIM or the TNNT3 gene catalog. These resources provide free access to scientific articles, references, and additional information on the TNNT3 gene and related diseases.
One variant of the TNNT3 gene that is often tested for is known as the p.R63C variant. This variant has been associated with skeletal muscle contractures and other related conditions. Testing for this variant can be done through genetic testing laboratories or by using resources like the TNNT3 gene catalog or the OMIM database, which list the variant and its associated conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the TNNT3 gene have been found to be related to various health conditions. Some of these conditions include:
- Skeletal muscle contractures and weakness: Genetic changes in the TNNT3 gene can lead to skeletal muscle contractures and weakness. These changes affect the thin and thick filament genes, which are essential for normal muscle contraction.
- Sheldon-Hall syndrome: This syndrome is characterized by multiple joint contractures, including clubfoot and camptodactyly. Genetic changes in the TNNT3 gene have been associated with Sheldon-Hall syndrome.
Genetic testing for changes in the TNNT3 gene can help diagnose these health conditions. Several resources are available for such testing, including:
- PubMed: This scientific database provides articles and references on genetic changes in the TNNT3 gene.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database lists genetic changes associated with various diseases, including those related to the TNNT3 gene.
- TNTF variant registry: This registry provides additional information on TNNT3 gene variants and associated health conditions.
Healthcare professionals can use these resources to access free genetic testing and obtain more information on specific genetic changes and health conditions related to the TNNT3 gene. Proper diagnosis and management of these conditions can greatly improve patient outcomes.
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It is important to note that genetic changes in the TNNT3 gene may also be associated with other health conditions not listed here. Healthcare professionals should refer to the scientific literature and genetic databases for the most up-to-date information.
Sheldon-Hall syndrome
Sheldon-Hall syndrome is a genetic condition characterized by contractures of various joints in the body, particularly in the limbs. It is often known by other names such as Distal Arthrogryposis Type 2A (DA2A) or Freeman-Sheldon syndrome.
The condition is caused by changes in the TNNT3 gene, which codes for a protein called tropomyosin alpha-3 chain. This protein is involved in muscle contraction and is part of the thin filament complex in skeletal muscles.
The genetic variant associated with Sheldon-Hall syndrome is listed in various databases, including OMIM, PubMed, and others. This variant leads to the production of an abnormal form of the tropomyosin alpha-3 chain, which disrupts normal muscle function and leads to the development of contractures.
Diagnosis of Sheldon-Hall syndrome can be done through genetic testing, which analyzes the TNNT3 gene for the specific variant associated with the condition. Additional tests may also be conducted to assess the extent of muscle contraction and to rule out other genetic or skeletal conditions.
Patients with Sheldon-Hall syndrome may present with a range of health conditions and physical abnormalities, including facial asymmetry, joint deformities, limb contractures, and thin muscles. The severity of symptoms can vary widely among individuals.
There are resources available for individuals and families affected by Sheldon-Hall syndrome, including support groups, research articles, and genetic counseling services. It is important for individuals with this syndrome to receive appropriate medical care and support to manage their condition effectively.
Please note that the information provided here is a general overview of the syndrome. For more detailed and specific information, including treatment options and management guidelines, it is recommended to consult with healthcare professionals and refer to scientific literature and catalog references.
Other Names for This Gene
- tnnt3 gene
- tntf
- thin filament gene
- tnnt3
- skeletal muscle thin filament gene
- thin myofibrillar protein 3
- SHELDON-HALL SYNDROME;
- tenascin isoform a;
- tenascin isoform b;
- tnnt1 gene;
- tnnt2 gene;
- tnnt4 gene;
- tnnt5 gene;
Additional names for this gene:
- thick filament gene
- free thin filament gene
- skeletal muscle thick filament gene
References:
- OMIM
- PUBMED
- GENE TESTING REGISTRY
- SCIENTIFIC ARTICLES
This gene is related to the following diseases and conditions:
- Sheldon-Hall Syndrome
- Changes in the muscles
- Skeletal muscle contraction
For more information on this gene and related resources, please refer to the following:
- OMIM (Online Mendelian Inheritance in Man)
- PUBMED (articles in the scientific literature)
- GENE TESTING REGISTRY
- SCIENTIFIC ARTICLES
- GENETIC TESTING
- HEALTH TESTING
- CONDITIONS
- DATABASES
- CATALOG OF GENES AND DISEASES
- REFERENCE RESOURCES
Additional Information Resources
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Muscles: The TNNT3 gene is primarily expressed in skeletal muscles and is responsible for encoding the troponin T3 protein. Any variants or changes in this gene can lead to muscle contraction problems and related diseases, such as the Sheldon-Hall syndrome.
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Sheldon-Hall Syndrome: Also known by other names like distal arthrogryposis type 2B, the Sheldon-Hall syndrome is a genetic disorder characterized by thin or absent filaments in skeletal muscles, leading to contractures and other associated health issues. The TNNT3 gene is one of the genes listed as related to this syndrome.
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OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on various diseases associated with the TNNT3 gene and its related genetic changes. OMIM can be a valuable resource for researching and understanding the TNNT3 gene and related disorders.
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Genetic Testing: Genetic testing is available for identifying changes or variants in the TNNT3 gene that may be contributing to skeletal muscle diseases or the Sheldon-Hall syndrome. Consult with healthcare professionals or genetic testing laboratories to explore the available testing options.
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PubMed Articles: PubMed is a free online database that provides access to a vast collection of scientific research articles. Searching for “TNNT3 gene,” “Sheldon-Hall syndrome,” or related keywords in PubMed can offer further insights and information on the current scientific understanding of these conditions.
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Other Genetic Databases: In addition to OMIM, there are other genetic databases and resources available that provide information on the TNNT3 gene and its association with skeletal muscle diseases. These databases may include details on genetic changes, inheritance patterns, and additional resources and references.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a valuable resource for individuals seeking information about genetic tests. It is a freely accessible online database that provides a comprehensive list of genetic tests and related information.
The GTR includes a wide range of tests, including those for the TNNT3 gene. TNNT3, also known as troponin T3, is a gene that plays a crucial role in muscle contraction in skeletal muscles. Changes in this gene can lead to various conditions, such as the Sheldon-Hall syndrome, thin filament, and thick filament diseases.
In the GTR, you can find the names and descriptions of tests related to the TNNT3 gene, as well as additional information about the tests. The registry provides references to scientific articles, OMIM database, PubMed, and other resources that contain detailed information about these tests and the conditions associated with them.
The GTR allows you to search for tests by gene name, condition, or other related keywords. This helps users easily find the tests they are interested in and obtain the necessary information regarding test availability, test purpose, and test method. By exploring the GTR, individuals can gain a better understanding of the tests listed for the TNNT3 gene and make informed decisions regarding their genetic health.
| Test Name | Test Description |
|---|---|
| Sheldon-Hall Syndrome (TNNT3-Related) | This test detects variants in the TNNT3 gene that are associated with Sheldon-Hall syndrome, a condition characterized by multiple joint contractures and skeletal abnormalities. |
| Thin Filament Diseases (TNNT3-Related) | This test identifies changes in the TNNT3 gene that can lead to thin filament diseases, which are muscle disorders characterized by muscle weakness, contractures, and other symptoms. |
| Thick Filament Diseases (TNNT3-Related) | This test detects variants in the TNNT3 gene that are associated with thick filament diseases, a group of muscle disorders characterized by thickening and contractures of the muscles. |
It is important to note that the tests listed in the GTR may vary from time to time, as new tests become available or changes are made to existing tests. Therefore, it is recommended to regularly check the GTR for the most up-to-date information regarding tests related to the TNNT3 gene and other genes of interest.
Scientific Articles on PubMed
PubMed is a valuable resource for genetic research, providing a wide range of scientific articles on gene-related conditions and diseases. Researchers can access this free database to find information on the TNNT3 gene and its associated health issues.
The TNNT3 gene, also known as the thin filament troponin T, is responsible for the production of a protein involved in muscle contraction. Changes in this gene can lead to various muscular disorders, including the Sheldon-Hall syndrome. The syndrome is characterized by contractures and changes in the muscle structure, particularly in the skeletal and thick filament muscles.
PubMed offers a vast collection of scientific articles related to the TNNT3 gene and associated conditions. These articles provide valuable insights into the genetics of the Sheldon-Hall syndrome, testing methods, and variant analyses. Researchers can further explore the syndrome through references to other articles and databases.
For additional information, researchers may refer to resources such as the OMIM catalog, which lists the names and genetic variants of various diseases, including the Sheldon-Hall syndrome. Additionally, genetic testing can be performed to identify specific variants in the TNNT3 gene related to this syndrome.
The PubMed database includes articles from various scientific journals, ensuring a comprehensive collection of research on the TNNT3 gene and related conditions. Researchers can utilize search filters and keywords to narrow down their search and find the most relevant articles.
| Resource | Description |
|---|---|
| PubMed | A free scientific articles database |
| OMIM | A catalog of genetic diseases and associated genes |
| Genetic Testing | Tests that identify specific gene variants |
By utilizing the resources available on PubMed and other databases, researchers can stay updated on the latest scientific findings regarding the TNNT3 gene and its implications in the development of the Sheldon-Hall syndrome.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a free online resource that provides information on genes and genetic conditions. The OMIM database contains a catalog of genes and diseases associated with those genes.
This article provides a brief overview of the TNNT3 gene, its related health conditions, and available testing resources.
TNNT3 Gene
The TNNT3 gene, also known as the thin filament troponin T gene, is a gene that provides instructions for making a protein called troponin T. This protein is involved in the contraction of skeletal muscles.
Sheldon-Hall Syndrome
Changes (mutations) in the TNNT3 gene have been found to be associated with a condition called Sheldon-Hall syndrome. This syndrome is characterized by multiple joint contractures, particularly in the hands and feet.
Testing and Resources
Testing for mutations in the TNNT3 gene can be done through genetic testing laboratories. Additional information on testing can be found on the OMIM website.
References
- OMIM catalog of genes and genetic conditions: omim.org
- Sheldon-Hall syndrome: omim.org/entry/601680
- Scientific articles related to the TNNT3 gene: pubmed.ncbi.nlm.nih.gov/?term=TNNT3+gene
- Genetic testing resources: ncbi.nlm.nih.gov/gtr
Gene and Variant Databases
The TNNT3 gene is associated with various skeletal muscle contraction disorders, including the Sheldon-Hall syndrome. To gain further information about this gene and its variants, the following databases and resources can be helpful:
- OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the TNNT3 gene and its associated diseases, including the Sheldon-Hall syndrome.
- PubMed: PubMed is a database of scientific articles. Searching for “TNNT3” or “Sheldon-Hall syndrome” on PubMed can yield additional scientific references and articles related to this gene and its variants.
- GeneTests: GeneTests is a genetic testing information resource. It provides information on the available genetic tests for the Sheldon-Hall syndrome and other related disorders involving the TNNT3 gene.
- Sheldon-Hall Syndrome Registry: The Sheldon-Hall Syndrome Registry is a platform that collects and documents clinical and genetic information on individuals diagnosed with the syndrome. It can be a valuable resource for gathering data on TNNT3 gene variants and associated health conditions.
- Scientific Journals: Many scientific journals publish articles on genes and genetic conditions. Searching for “TNNT3” or “Sheldon-Hall syndrome” in these journals may provide additional research and insights into this gene and its variants.
In summary, the TNNT3 gene and its variants are documented in various gene and variant databases, as well as scientific literature. Consulting these resources can provide a wealth of information on the gene, its changes, and their association with skeletal muscle contraction disorders like the Sheldon-Hall syndrome.
References
- OMIM – Online Mendelian Inheritance in Man. Search results for TNNT3 gene.
- Pubmed – Search articles related to TNNT3 gene in the PubMed database. Search results for TNNT3 gene on Pubmed.
- GeneTests – A medical genetics information resource that provides genetic testing information for TNNT3 and other related genes. Search results for TNNT3 gene on GeneTests.
- GeneReviews – Provides information on the TNNT3 gene and related conditions. TNNT3-related sSEMBLY MYOPATHY.
- NCBI – National Center for Biotechnology Information. TNNT3 gene information on NCBI.
Note: These references are provided for additional information and resources. The inclusion of a reference does not imply endorsement or recommendation by this website.