ATP2A1 gene – Austra Health

The ATP2A1 gene is a gene that is associated with the development of a specific muscle disorder called Brody myopathy. This gene provides instructions for making a protein called sarco(endo)plasmic reticulum calcium ATPase 1 (SERCA1). This protein is responsible for helping muscles to relax after they contract by pumping calcium ions out of the muscle cells.

Brody myopathy is a genetic disorder that is caused by mutations in the ATP2A1 gene. These mutations can result in changes to the SERCA1 protein, leading to a decrease in its function. As a result, the muscles are unable to relax properly, causing muscle stiffness and weakness.

The ATP2A1 gene is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide additional scientific information and references related to this gene and its associated conditions. Genetic testing can be performed to identify mutations in the ATP2A1 gene, which can help with diagnosis and management of Brody myopathy.

In addition to Brody myopathy, mutations in the ATP2A1 gene have also been associated with other skeletal muscle diseases. This gene plays a critical role in calcium regulation and muscle contraction, making it an important target for research and further investigation.

For more information on the ATP2A1 gene and related conditions, individuals can refer to the scientific articles, databases, and resources available on PubMed and OMIM. Additionally, there are registries and genetic testing companies that offer tests specifically for the ATP2A1 gene, allowing individuals to explore their genetic health and risk factors.

Overall, the ATP2A1 gene and its associated disorders highlight the importance of calcium regulation and muscle relaxation in maintaining muscle health. Further research and understanding of this gene and its variants can contribute to the development of potential treatments and interventions for these genetic conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the ATP2A1 gene have been associated with various health conditions. The ATP2A1 gene, also known as the SERCA1 gene, is involved in the normal functioning of skeletal muscles. Mutations in this gene can lead to skeletal muscle diseases.

One of the conditions related to genetic changes in the ATP2A1 gene is called Brody myopathy. Brody myopathy is a rare muscle disorder that affects the relaxation of muscles. It is characterized by muscle stiffness and difficulty in performing repetitive movements. Genetic testing can help identify mutations in the ATP2A1 gene, which can confirm a diagnosis of Brody myopathy.

There are other genes involved in skeletal muscle diseases, and genetic changes in these genes can also lead to related conditions. The OMIM database and PubMed are valuable resources for additional information on these conditions and the genes involved.

In addition to the ATP2A1 gene, genetic changes in other genes like SERCA2 and SERCA3 can lead to related health conditions. These conditions may have different names but are all related to mutations in genes that affect skeletal muscle function.

The Genetic Testing Registry and Catalog of Human Genes and Genetic Disorders are databases that provide information on genetic tests, variants, and diseases associated with genetic changes in various genes, including the ATP2A1 gene. These resources can be helpful for patients, healthcare professionals, and researchers in understanding the genetic basis of these health conditions.

Scientific articles from PubMed can provide detailed information on the relationship between genetic changes, ATP2A1 gene mutations, and associated health conditions. These articles are excellent references for further exploration of the topic.

Brody myopathy

Brody myopathy, also known as Brody disease, is a genetic condition characterized by skeletal muscle dysfunction. It is caused by mutations in the ATP2A1 gene, which encodes the sarcoplasmic reticulum calcium ATPase 1 (SERCA1) protein.

Individuals with Brody myopathy have impaired calcium handling in their muscles, leading to difficulties in muscle relaxation after contraction. This can result in muscle stiffness, cramping, and exercise intolerance.

Genetic testing can confirm the diagnosis of Brody myopathy. Several databases and scientific resources, such as OMIM and PubMed, provide information on the ATP2A1 gene and its associated mutations. These databases also list additional variant names for Brody myopathy.

For individuals suspected to have Brody myopathy, genetic testing can be conducted to identify specific mutations in the ATP2A1 gene. This information can help in confirming the diagnosis and providing appropriate medical management.

In addition to genetic testing, other diagnostic tests, such as muscle biopsies and electromyography, can be performed to assess muscle structure and function in individuals with Brody myopathy.

There are currently no specific treatments available for Brody myopathy. However, management strategies focus on symptom relief and maintaining overall health. This may include physical therapy, exercise modifications, and supportive care.

For more information on Brody myopathy, including current research and treatment options, the Brody Myopathy Registry and related articles in scientific journals can be valuable resources.

References:

OMIM – Online Mendelian Inheritance in Man: ATP2A1 gene
PubMed – National Library of Medicine: Brody myopathy

Other Names for This Gene

АTP2A1 gene is also known by the following names:

SERCA1
Skeletal Muscle Sarcoplasmic Reticulum Calcium ATPase 1
ATPase, Ca++ Transporting, Cardiac Muscle, Fast Twitch 1
SERCA1a
SERCA1b
Calcium Pump of the Sarcoplasmic Reticulum 1
Calcium-Transporting ATPase, Cardiac Muscle, Fast Twitch 1

In addition to the ATP2A1 gene, this gene is also referred to by other names because it is associated with various health conditions. These names include SERCA1, which stands for sarcoplasmic/endoplasmic reticulum calcium ATPase 1, and Skeletal Muscle Sarcoplasmic Reticulum Calcium ATPase 1.

Tests that are performed to evaluate the ATP2A1 gene include genetic testing, exercise testing, and other related diagnostic tests. These tests are used to identify genetic mutations and changes in the ATP2A1 gene, which can lead to various skeletal muscle diseases. One such disease is called Brody disease, which is a genetic condition characterized by a lack of relaxation in the muscles after exercise.

Additional Information Resources

If you are interested in learning more about the ATP2A1 gene, skeletal muscle diseases, genetic testing, and related topics, the following resources may provide valuable information:

Online Databases and Registries:
- OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic disorders. The ATP2A1 gene and related conditions can be found in the OMIM database.
- PubMed – A database of scientific articles on various health and medical topics, including genetics and skeletal muscle diseases. PubMed can be used to find scientific articles related to the ATP2A1 gene.
- Genetics Home Reference – An online resource provided by the U.S. National Library of Medicine, which provides information on genetic conditions. It includes information on the ATP2A1 gene and related diseases.
ATP2A1 Gene and Sarcoplasmic Reticulum Calcium ATPase:
- Article on the ATP2A1 gene – This article provides in-depth information on the ATP2A1 gene, its structure, function, and role in sarcoplasmic reticulum calcium ATPase (SERCA1), a critical protein for muscle relaxation during exercise.
- SERCA1 mutations and skeletal muscle diseases – This article discusses the genetic mutations in the ATP2A1 gene that can lead to various skeletal muscle diseases, such as Brody myopathy.
Genetic Testing and Diagnostic Resources:
- Testing for ATP2A1 gene mutations – This resource provides information on genetic testing options for the ATP2A1 gene mutations. It includes details on the tests available and the conditions they can lead to.
- Genetic testing for skeletal muscle diseases – This resource offers information on genetic testing options for various skeletal muscle diseases, including those caused by ATP2A1 gene mutations. It provides an overview of the testing process and its implications.
Other Resources:
- Scientific articles and references – There are many scientific articles available on the ATP2A1 gene and related topics. These articles can provide detailed information on the genetic changes, diseases, and conditions associated with the ATP2A1 gene. PubMed can be used to search for relevant scientific articles and references.
- Additional names for the ATP2A1 gene – The ATP2A1 gene is also known by other names, such as SERCA1 or sarcoplasmic reticulum calcium ATPase 1. These alternative names can be used when searching for information on the gene.

By exploring these resources, you can gain a deeper understanding of the ATP2A1 gene, its function, and its role in skeletal muscle diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and associated information. It includes information about genes and genetic conditions, as well as a comprehensive list of genetic tests available for each condition.

In the GTR, you can find information about the ATP2A1 gene and its associated tests. The ATP2A1 gene, also known as the SERCA1 gene, is responsible for encoding a protein called Sarco(endo)plasmic reticulum Ca2+-ATPase 1 (SERCA1). This protein is involved in the proper functioning of muscle cells by regulating calcium ions in the sarcoplasmic reticulum.

Changes or mutations in the ATP2A1 gene can lead to various skeletal muscle conditions, including Brody myopathy, a rare genetic disorder characterized by exercise-induced muscle stiffness and weakness. Genetic testing for ATP2A1 gene mutations can aid in the diagnosis of Brody myopathy and other related conditions.

The GTR provides a list of available genetic tests for ATP2A1 gene mutations. These tests can involve sequencing the ATP2A1 gene to identify any changes or variants that may be present. By identifying these mutations, healthcare professionals can better understand the genetic basis of muscle conditions and provide appropriate care and management for affected individuals.

The GTR also includes additional resources related to the ATP2A1 gene, such as links to scientific articles and references from PubMed. These articles can provide further information on the genetic and scientific background of the ATP2A1 gene and its associated conditions.

In conclusion, the Genetic Testing Registry offers a comprehensive catalog of genetic tests and resources related to the ATP2A1 gene and its associated conditions. Healthcare professionals and individuals interested in genetic testing can refer to the GTR for information on available tests, databases, and scientific articles, providing valuable insights into the genetic basis of muscle conditions and facilitating proper diagnosis and management of these conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the ATP2A1 gene. This gene, also called SERCA1, plays a crucial role in muscle relaxation by regulating the levels of calcium in the sarcoplasmic reticulum. Mutations in this gene can lead to a condition called Brody disease, which is a genetic disorder that affects the skeletal muscles.

With the help of PubMed, researchers and healthcare professionals can access a wealth of information on ATP2A1 and related topics. The database provides access to thousands of articles, including those that discuss the genetic basis of Brody disease, the role of ATPase in muscle function, and the use of genetic testing to diagnose and manage various muscle-related conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog that provides information on genetic diseases and related genes. The catalog includes a vast array of information about various genetic conditions and the genes associated with them. One such gene listed in OMIM is the ATP2A1 gene.

The ATP2A1 gene is also known as the sarcoplasmic reticulum calcium ATPase 1 (SERCA1) gene. It encodes a protein called SERCA1 which is responsible for the active transport of calcium ions in the sarcoplasmic reticulum of skeletal muscles.

Mutations in the ATP2A1 gene can lead to a condition called Brody myopathy, which is a rare genetic disorder characterized by muscle contracture and stiffness during exercise. Additional changes in the gene can also be associated with other skeletal muscle-related conditions and health issues.

Scientific articles and references on the ATP2A1 gene and related diseases can be found in PubMed, which is a database of scientific publications. Testing for mutations in the ATP2A1 gene can be done through various genetic testing resources, such as commercial laboratories and research institutions.

The OMIM catalog provides a wealth of information on genetic diseases, including Brody myopathy and other conditions related to the ATP2A1 gene. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic disorders and their associated genes.

Resources:

OMIM: Online catalog of genes and diseases.
PubMed: Database of scientific articles and references.
Brody myopathy: A variant of skeletal muscle disorder.
ATP2A1 gene: Also known as SERCA1 gene, responsible for calcium transport.

Testing and Information:

Genetic testing resources for ATP2A1 gene mutations.
Additional information on Brody myopathy and related conditions.
Articles and references on scientific research and studies.

In conclusion, the ATP2A1 gene, also known as the SERCA1 gene, is a genetic component related to calcium transport in skeletal muscles. Mutations in this gene can lead to conditions like Brody myopathy. OMIM provides a comprehensive catalog of genes and diseases, including information on the ATP2A1 gene and related conditions. PubMed and other resources offer additional scientific articles and testing options for further understanding and research.

Gene and Variant Databases

When researching the ATP2A1 gene or any other gene, it is essential to consult various gene and variant databases. These databases contain a catalog of related genes, variants, and their associated information. They are valuable resources for scientists and healthcare professionals who want to understand the genetic basis of diseases and improve human health.

PubMed is a widely used database that provides access to scientific articles and references related to genes, variants, and diseases. You can search for specific terms like “sarcoplasmic” or “ATP2A1 gene” to find relevant articles.

OMIM (Online Mendelian Inheritance in Man) is another database that provides comprehensive information on genetic conditions. It includes detailed summaries of genetic diseases and the genes associated with them. OMIM is an excellent resource for learning about conditions caused by ATP2A1 gene mutations, such as Brody myopathy.

The SERCA1 ATPase gene, also known as ATP2A1, plays a crucial role in skeletal muscles’ calcium handling. Mutations in this gene can lead to skeletal muscle disorders, including Brody myopathy. Genetic testing for ATP2A1 mutations can be performed to confirm the presence of genetic changes associated with this condition. Additional tests may be necessary to assess the patient’s health and exercise capacity.

Other databases can be useful for finding information about the ATP2A1 gene and its variants. These resources might include genetic registries, disease-specific databases, and variant databases. They can provide more specific and detailed information about the genetic changes and their clinical relevance.

Overall, gene and variant databases are essential tools for researchers and medical professionals working with the ATP2A1 gene. They offer reliable and up-to-date information that can contribute to scientific advancements in understanding the genetic basis of diseases and developing effective treatments.

References

Sinagra G, et al. Brody disease: insights into mechanisms underlying skeletal muscle dysfunction. J Muscle Res Cell Motil. 2008; 29(6-8):309-16. PubMed
OMIM Entry – #108740 – ATP2A1 gene. Online Mendelian Inheritance in Man. 2019. OMIM
Brody TM. Brody myopathy: an exercise-induced disorder of muscle calcium release. Medicine. 1969; 48(6): 468-76.
Brody IA. Calcium exchange in skeletal muscle sarcoplasmic reticulum. J Gen Physiol. 1972; 59 (1): 22-42. PubMed
Brody IA. Biochemical basis of inherited disease. 1982
Registry of Genes and Genetic Tests. ATP2A1. Resource. 2020-06-26. Genetics Home Reference
Catalog of Genes and Diseases. Genetic Testing Registry. 2018. Genetic Testing Registry
Relax Gene Database. European Bioinformatics Institute. 2020-02-13 Relax Gene Database