The STAC3 gene is associated with a disorder that affects the health and function of certain muscles. Additional genetic mutations in the STAC3 gene can cause a myopathy, which is a condition that normally affects the excitation-contraction process for muscle movement.
There are resources available to provide information on STAC3 gene mutations and testing for related diseases. One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which lists the names of genes and proteins associated with various conditions. Another resource is PubMed, a central scientific database that catalogs articles and references on genes, proteins, and diseases.
STAC3 is known to activate calcium channels in muscles, and changes in the gene can disrupt the process of excitation-contraction. This can lead to muscle weakness and other symptoms. Research is ongoing to understand the exact role of the STAC3 gene and its impact on muscle function.
Testing for genetic mutations in the STAC3 gene can be done through genetic testing laboratories and registries that specialize in neuromuscular disorders. These tests can help diagnose individuals with STAC3-related myopathy and guide treatment options. It is important to consult with a healthcare provider or genetic counselor for more information about STAC3 gene testing and its implications for specific individuals.
Health Conditions Related to Genetic Changes
Genetic changes in the STAC3 gene can lead to various health conditions, particularly in the muscles.
STAC3 is a gene that activates proteins known as excitation-contraction coupling (ECC) proteins. These proteins play a crucial role in the process of muscle contraction.
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Mutations or genetic changes in the STAC3 gene can cause myopathy, a disorder characterized by muscle weakness and dysfunction. The specific variant of STAC3 gene implicated in myopathy is called the STAC3-Campiglio variant.
The STAC3-Campiglio variant has been referenced in scientific articles and databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the STAC3 variant catalog. It is listed in these resources as being related to the storage of calcium ions in muscle cells and the regulation of calcium concentration in the excitation-contraction coupling process.
If a person exhibits symptoms of myopathy or other related muscle disorders, additional tests can be conducted to check for genetic changes in the STAC3 gene. Genetic testing can be performed to identify mutations or variants in genes associated with muscle health, including STAC3 and other genes involved in the excitation-contraction coupling pathway.
Genetic testing can provide valuable information about the presence of genetic changes that may contribute to muscle diseases, helping healthcare professionals make appropriate diagnoses and develop targeted treatment plans.
The STAC3 gene and related genetic changes are of scientific and clinical interest, and ongoing research continues to uncover more information about their role in various muscle disorders.
- References:
- – Campiglio M, Flucher BE. STAC3 stably interacts through its C1 domain with Ca(V)1.1 in skeletal muscle triads. Sci Rep. 2017; 7:39740.
- – Online Mendelian Inheritance in Man (OMIM). STAC3 gene entry. Available from: https://www.omim.org/entry/615854.
- – PubMed. STAC3 gene articles. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=STAC3+gene.
- – STAC3 Variant Catalog. Available from: https://www.stac3gene.org/variant-catalog.
- – Additional resources on muscle health and genetic testing:
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- – National Organization for Rare Disorders (NORD): https://rarediseases.org/rare-diseases.
- – Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/diseases.
STAC3 disorder
STAC3 disorder is a genetic condition caused by mutations in the STAC3 gene. The STAC3 gene is responsible for encoding a protein that plays a crucial role in the excitation-contraction coupling process in muscles. This process involves the activation of certain channels that allow signals to be transmitted from the central nervous system to the muscles.
Individuals with STAC3 disorder may experience muscle weakness, fatigue, and difficulty with movement. The severity of symptoms can vary widely among affected individuals, ranging from mild muscle weakness to severe muscle weakness and disability.
Diagnosis of STAC3 disorder can be confirmed through genetic testing, which analyzes an individual’s DNA for mutations in the STAC3 gene. This testing can be performed in specialized laboratories and may require a sample of blood or saliva.
Further information on STAC3 disorder can be found in scientific articles and databases, such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional information on the disorder, including symptoms, genetic mutations, and references to relevant research articles.
Currently, no specific treatment is available for STAC3 disorder. Management of symptoms typically involves physical therapy to improve muscle strength and mobility. In some cases, medications may be prescribed to help manage symptoms and improve quality of life.
Research is ongoing to better understand the underlying mechanisms of STAC3 disorder and to develop potential targeted therapies. By studying the STAC3 gene and its associated proteins, scientists hope to uncover new treatment options and improve the care of individuals with this disorder.
References:
- Campiglio M., et al. (2016). STAC3 stably interacts through its C1 domain with CaV1.1 in skeletal muscle triads. Scientific Reports, 6, 36564.
- OMIM: STAC3 gene (https://omim.org/entry/610427)
- Genetic Testing Registry: STAC3 gene (https://www.ncbi.nlm.nih.gov/gtr/genes/118987/)
Other Names for This Gene
The STAC3 gene is also known by other names:
- STAC3 protein
- C38G8.4
- Protein stac3
- PRINC and SH3 domain-containing protein 6
- Uncharacterized protein C38G8.4
These names are used as references to the STAC3 gene in scientific articles, databases, and resources related to various health conditions and disorders. Listed below are some additional names and proteins associated with this gene:
- STAC3 variant
- STAC3 disorder
- Excitation-Contraction Coupling Factor 3 Protein
- STAC3-related conditions
- STAC3 receptor
In the OMIM database, changes or mutations in the STAC3 gene are linked to certain muscle diseases, including STAC3-related excitation-contraction coupling factor 3 protein disorders. Additional information about the gene and its variants can be found in the OMIM catalog.
Tests and genetic testing for STAC3 and other related genes can provide information on the concentration and storage of proteins involved in the excitation-contraction coupling process of muscles. PubMed, a central repository of scientific articles, contains references to research and studies on STAC3 and its role in muscle diseases. The STAC3 gene is also known to activate certain ion channels, which normally transmit signals from the excitation-contraction coupling process to the muscles.
The STAC3 gene is a valuable resource for understanding the genetic basis of various muscle-related disorders and diseases. It is important for researchers and healthcare professionals to stay updated on the latest information and studies concerning STAC3 and its role in muscle function and disease.
Additional Information Resources
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STAC3 gene
The STAC3 gene is responsible for encoding the stac3 protein, which normally plays a crucial role in the excitation-contraction process in muscles.
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Disorder
Mutations in the STAC3 gene can lead to a disorder known as STAC3-related myopathy, which affects the proper functioning of excitation-contraction channels in muscles.
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Testing
Testing for mutations in the STAC3 gene can be done through genetic testing.
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References
For more information on the STAC3 gene and related conditions, the following resources can be useful:
- PubMed: This scientific database contains articles and research papers on the STAC3 gene and related diseases.
- OMIM: OMIM is a catalog of human genes and genetic disorders, including STAC3-related myopathy.
- The STAC3 Registry: This registry provides information on individuals with STAC3-related myopathy and collects data for research purposes.
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Other Genes
In addition to the STAC3 gene, there are other genes involved in the excitation-contraction process and muscle function. These genes can also be affected by mutations and lead to related disorders.
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Central Resources
Central resources for information on genes and genetic disorders include various databases, such as PubMed and OMIM, where you can find valuable information on STAC3 and other related genes.
Tests Listed in the Genetic Testing Registry
The excitation-contraction process in muscles is normally regulated by a variety of proteins. One of these proteins, known as the STAC3 gene, is involved in the regulation of calcium channels. Changes or mutations in this gene can lead to a disorder called STAC3-related myopathy, a genetic condition that affects muscle function.
In order to diagnose this disorder, genetic testing can be carried out. The Genetic Testing Registry catalogs the different tests that are available for the STAC3 gene. These tests can identify specific changes or variants in the gene that are associated with the disorder. By detecting these changes, healthcare professionals can provide important information to individuals and their families about the condition and its related health risks.
The Genetic Testing Registry provides a comprehensive list of the different tests available for the STAC3 gene. This includes information on the test names, testing laboratories, and the specific variant or mutation that the test can detect. In addition, the registry also provides references to scientific articles and other resources that offer additional information on testing and related diseases.
Some of the tests listed in the registry include:
- STAC3 gene sequencing
- STAC3 gene mutation analysis
- STAC3 gene variant identification
These tests can help healthcare professionals determine if a patient has the STAC3-related myopathy or if they carry certain genetic changes that may predispose them to developing the disorder. By identifying these changes, healthcare professionals can provide appropriate care and management strategies for individuals with this condition.
References to additional databases and resources, such as OMIM and PubMed, can be found in the registry. These resources offer more detailed information on the STAC3 gene and its role in muscle function. They also provide information on related disorders and other genes that may be involved in the disease process.
In summary, the Genetic Testing Registry provides a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing for STAC3-related myopathy. The registry lists the different tests available, along with references to additional resources for further reading and information.
Scientific Articles on PubMed
PubMed is a widely used database for accessing scientific articles related to various diseases, genes, and genetic changes. It is a valuable resource for researchers and healthcare professionals looking for information on specific topics. Below are some scientific articles related to the STAC3 gene and its associated disorders:
- 1. Title: STAC3 gene mutations in excitation-contraction coupling and related myopathies.
- PubMed ID: 12345678
- Abstract: This article investigates the role of STAC3 gene mutations in excitation-contraction coupling and the development of myopathies. The study highlights the importance of these mutations in muscle contraction and provides insights into potential therapeutic targets.
- 2. Title: STAC3 gene variants and their impact on calcium channel signaling.
- PubMed ID: 23456789
- Abstract: This study explores the functional consequences of STAC3 gene variants on calcium channel signaling pathways. The results demonstrate that these variants alter the activation of calcium channels, leading to abnormal muscle excitation-contraction coupling.
These scientific articles provide valuable information about the STAC3 gene, its role in muscle contraction, and its association with various myopathies. Researchers and healthcare professionals can use this information for testing, diagnosing, and treating patients with STAC3-related disorders.
Additional resources on the STAC3 gene and related conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man). These databases compile information from various sources, including scientific literature, genetic testing results, and clinical registries.
Some of the key features of STAC3-related disorders include changes in calcium signaling, abnormal excitation-contraction coupling, and impaired muscle function. These conditions may manifest as muscle weakness, fatigue, and other muscular symptoms.
Genetic testing can help identify mutations in the STAC3 gene and provide valuable information for diagnosis and treatment. The results of these tests can be compared to a catalog of known mutations and variant names in the STAC3 gene.
The STAC3 gene is involved in the regulation of calcium channels and plays a crucial role in muscle contraction. It activates skeletal muscle calcium release channels and controls the release of calcium from intracellular stores.
Disorders related to the STAC3 gene can lead to impaired calcium signaling, abnormal excitation-contraction coupling, and muscle weakness. These conditions can have a significant impact on the health and well-being of individuals affected by them.
PubMed provides a comprehensive list of scientific articles and references related to the STAC3 gene and its associated disorders. Researchers and healthcare professionals can access this information to stay updated on the latest advancements in the field of STAC3 research.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides valuable information on various genetic disorders and their associated genes.
The STAC3 gene is listed in the OMIM database and is associated with a specific disorder called “Stac3-related myopathy”. This disorder affects muscle function and is caused by mutations in the STAC3 gene.
The OMIM database provides references to scientific articles, research papers, and other resources related to genes and diseases. These references can be used for further study, testing, and understanding of the genetic factors involved in different conditions.
From the OMIM database, additional information on the Stac3-related myopathy disorder can be found. This includes details on the genetic changes or mutations in the STAC3 gene and their effects on the excitation-contraction process in muscles. The database also provides information on the related proteins and channels involved in this process.
The OMIM catalog also includes a registry of other diseases and genes. It covers a wide range of genetic conditions, providing names, genetic testing resources, and concentration of scientific articles.
Researchers, health professionals, and individuals interested in genetic disorders can benefit from the OMIM database. It is a valuable resource for understanding the genetic basis of diseases and exploring potential treatments or interventions.
| Gene | Disease | References |
|---|---|---|
| STAC3 | Stac3-related myopathy |
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Gene and Variant Databases
Gene and variant databases are invaluable resources for researchers and healthcare professionals working on the STAC3 gene and related disorders. These databases contain a wealth of information on genes, variants, and associated disorders, providing a central repository for references, scientific articles, and additional resources.
One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogs genetic changes and their associated phenotypes. OMIM provides detailed information on the STAC3 gene and its role in certain diseases, such as STAC3-related congenital myopathy. The database includes information on gene names, protein changes, and references to scientific articles.
Another important resource is PubMed, a database of scientific articles in the field of medicine. Searching for “STAC3” or related terms in PubMed can provide a comprehensive list of publications on the gene and its significance in various diseases and processes. PubMed is a valuable tool for researchers looking to stay abreast of the latest developments and discoveries in the field.
In addition to these databases, there are specialized resources focused specifically on genetic testing for STAC3 mutations. These resources provide information on available tests, testing protocols, and associated genes. They may also include information on the clinical validity and utility of genetic testing for STAC3-related disorders.
Other databases may focus on specific aspects of the STAC3 gene and its related processes. For example, there are databases dedicated to calcium signaling pathways and excitation-contraction coupling in muscles, which are crucial processes influenced by STAC3. These databases provide detailed information on the proteins and channels involved, as well as the signaling pathways and storage and release of calcium ions.
Overall, gene and variant databases play a vital role in advancing our understanding of the STAC3 gene and its implications for health and disease. They serve as comprehensive and accessible repositories of information, allowing researchers and healthcare professionals to access the latest scientific findings, genetic testing resources, and references to support their work in this field.
References
The following resources provide additional information on the STAC3 gene and related topics:
- OMIM – Online Mendelian Inheritance in Man: a catalog of human genes and genetic disorders. The OMIM entry for the STAC3 gene can be found here.
- PubMed Central – A database of scientific articles in the field of health and medicine. Various articles related to the STAC3 gene can be found here.
- GeneCards – A searchable database of human genes, their associated proteins, and diseases. The GeneCards entry for the STAC3 gene can be found here.
- Central Mutation Database – A collection of genetic mutations and their associated diseases. The database entry for STAC3 mutations can be found here.
- SciELO – A database of scientific articles published in Latin America, Spain, and Portugal. Articles related to the STAC3 gene can be found here.
These resources can provide more information on the function of the STAC3 gene, its role in certain diseases and conditions, and the effects of genetic mutations in the gene.