EMD gene – Austra Health

The EMD gene, also known as emerin, is a gene that plays a crucial role in the regulation of various cellular functions. Mutations in this gene have been linked to Emery-Dreifuss muscular dystrophy, a genetic condition characterized by muscle wasting and heart problems. Emerin is a protein that is located in the inner nuclear envelope and is involved in maintaining the structural integrity of the nucleus.

Testing for mutations in the EMD gene can provide valuable health information and resources for individuals and families who are affected by Emery-Dreifuss muscular dystrophy. One of the main resources for genetic information is the PubMed database, which provides access to a vast collection of scientific articles and references on genes, mutations, and diseases. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource that catalogs genetic conditions and provides information on the genes and mutations associated with these conditions.

There are also additional resources available, such as the Emery-Dreifuss Muscular Dystrophy Registry, which collects data on individuals with Emery-Dreifuss muscular dystrophy and provides support and information for affected individuals and their families. These resources can help individuals and healthcare providers stay updated on the latest research and developments in the field of Emery-Dreifuss muscular dystrophy and related genetic conditions.

Understanding the functions of the EMD gene and the proteins it produces is crucial for researchers and healthcare providers working in the field of genetics and muscular dystrophy. By studying the changes in the EMD gene and its variants, scientists can gain insights into the underlying mechanisms of Emery-Dreifuss muscular dystrophy and other related diseases.

In conclusion, the EMD gene, also known as emerin, plays a crucial role in regulating various cellular functions and is associated with the development of Emery-Dreifuss muscular dystrophy. Testing for mutations in this gene can provide valuable health information and resources for individuals and families affected by this condition. Researchers and healthcare providers can access various databases and resources, such as PubMed and OMIM, to gather crucial information on genes, mutations, and diseases. By studying the functions and variants of the EMD gene, scientists can further our understanding of Emery-Dreifuss muscular dystrophy and related genetic conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the EMD gene are associated with various health conditions. These changes can be classified as variants, mutations, or other genetic alterations in the EMD gene.

EMD, also known as emerin, is a protein that plays a crucial role in the regulation of gene expression and the structure of the nucleus in cells. Mutations in the EMD gene lead to changes in the function and production of emerin, which can have significant effects on the health and well-being of individuals.

One of the health conditions related to genetic changes in the EMD gene is Emery-Dreifuss muscular dystrophy (EDMD). EDMD is a rare genetic disorder characterized by muscle weakness and wasting, joint contractures, and heart problems. It is named after Alan E. H. Emery and Fritz Dreifuss, who first described the condition in the scientific literature.

The EMD gene is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide additional information on the EMD gene, its functions, and the associated health conditions.

Genetic testing can be performed to identify changes in the EMD gene. These tests can help diagnose Emery-Dreifuss muscular dystrophy and other related conditions. Additionally, studying the EMD gene and its variants can contribute to a better understanding of the underlying mechanisms of these diseases, leading to potential advances in their diagnosis and treatment.

References to scientific articles and other relevant information can be found in the literature and databases, such as PubMed and OMIM. These resources provide valuable insights into the genetic changes in the EMD gene, their effects on health, and potential therapeutic approaches.

Summary:

Genetic changes in the EMD gene are associated with various health conditions.
The EMD gene is involved in regulating gene expression and the structure of the nucleus in cells.
One of the health conditions related to genetic changes in the EMD gene is Emery-Dreifuss muscular dystrophy.
Genetic databases and resources, such as OMIM and PubMed, provide information on the EMD gene and associated conditions.
Genetic testing can assist in diagnosing Emery-Dreifuss muscular dystrophy and other related conditions.
Scientific articles and databases contain additional information and references on the EMD gene and related health conditions.

Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EMD) is a genetic disease that affects the muscles. It is named after the two scientists, Alan Emery and Fritz Dreifuss, who first described the condition.

In EMD, mutations in specific genes lead to changes in proteins that are important for the normal functioning of muscle cells. One of the genes associated with EMD is the EMD gene, which regulates the structure of the nucleus and other functions in muscle cells.

Scientific testing can be done to identify mutations in the EMD gene and other genes associated with EMD. This genetic testing can provide valuable information on the specific variant of EMD a person has and help guide further treatment and management options.

It is important to note that EMD can sometimes exhibit similar symptoms to other conditions of genetic origin. Therefore, it is crucial to consult genetic resources such as Online Mendelian Inheritance in Man (OMIM) and other databases for additional information and to rule out other possible diseases.

For those interested in learning more about EMD, there are several databases and registries that provide information on the disease and associated genes. These resources can be helpful in understanding the genetic basis of EMD and its impact on health.

Other Names for This Gene

This gene is also known by the following names:

Emerin
Envelope

These names are used in various health databases and scientific articles related to this gene.

In addition, this gene is listed under different names in other resources and databases:

OMIM: This gene is listed in the Online Mendelian Inheritance in Man (OMIM) database under various names.
GeneTests: This gene is listed in the GeneTests Registry under different names associated with various conditions.
Emery-Dreifuss Muscular Dystrophy: This gene is associated with Emery-Dreifuss Muscular Dystrophy, which is caused by mutations in this gene.

Further information about the functions of this gene, as well as information on testing and variant changes, can be found in scientific articles and databases such as PubMed. Testing for mutations in this gene may be necessary for diagnosing Emery-Dreifuss Muscular Dystrophy or related conditions.

Additional resources and references for this gene can be found in the catalog of genetic diseases and other databases.

Additional Information Resources

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic diseases and genes. The entry for the EMD gene includes a summary of the gene’s functions and its association with Emery-Dreifuss muscular dystrophy.
Scientific Articles: PubMed is a database of scientific articles that can provide more detailed information on the EMD gene, its mutations, and their effects. Searching for keywords such as “EMD gene” or “Emery-Dreifuss muscular dystrophy” will yield relevant articles on the topic.
Genetic Testing: If you are interested in genetic testing for Emery-Dreifuss muscular dystrophy or other related conditions, consult a healthcare professional or a specialized genetic testing service. These tests can help identify specific mutations in the EMD gene or other genes associated with the disease.
References: Tifft CJ. Emery-Dreifuss Muscular Dystrophy. 2003 Jun 12 [Updated 2018 Aug 23]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1436/
Protein Databases: Several databases, such as UniProt and NCBI Protein, provide detailed information on the structure, function, and regulation of proteins. These resources can help understand how the emerin protein, encoded by the EMD gene, functions in the nucleus and other cellular processes.
Emery-Dreifuss Muscular Dystrophy Registry: The Emery-Dreifuss Muscular Dystrophy Registry collects data and information on individuals with Emery-Dreifuss muscular dystrophy and related conditions. This registry can provide additional resources and support for patients and families affected by these diseases.
Other Health-Related Databases: Besides OMIM and PubMed, other health-related databases, such as GeneCards and HUGO Gene Nomenclature Committee (HGNC), contain valuable information on genes, their functions, and associated diseases. Exploring these databases can provide a comprehensive understanding of the EMD gene and its roles in health and disease.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for various health conditions. In relation to the EMD gene, the GTR lists several tests that are relevant to the understanding of Emery-Dreifuss muscular dystrophy (EDMD) and other related conditions.

The GTR offers a comprehensive catalog of tests, including those related to the EMD gene, which plays a crucial role in the function of cells. The EMD gene codes for the emerin protein, which is responsible for regulating various functions within the nucleus of cells.

Some of the tests listed in the GTR include:

Testing for mutations and changes in the EMD gene
Testing for variants of the EMD gene
Testing for other genes that may be involved in Emery-Dreifuss muscular dystrophy and related conditions

These tests provide valuable information about the genetic basis of Emery-Dreifuss muscular dystrophy and can help in the diagnosis and management of the disease. They can also aid in understanding the underlying causes of other related conditions.

References to scientific articles and additional resources can be found in the GTR for further information on these tests and the diseases they are associated with. PubMed, OMIM, and other genetic databases are often referenced to provide comprehensive and up-to-date information.

Overall, the GTR serves as a valuable resource for healthcare professionals, researchers, and individuals seeking genetic information on Emery-Dreifuss muscular dystrophy and related diseases.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a vast collection of scientific articles related to diseases, genes, and other health-related topics. Researchers and medical professionals can find valuable information on various topics, including the Emery-Dreifuss Muscular Dystrophy (EDMD) gene.

PubMed is a valuable resource for finding scientific articles on the genetic basis of diseases. Specifically, it provides access to articles related to the Emery-Dreifuss Muscular Dystrophy gene. These articles describe the mutations, functions, and regulating factors of the EMD gene, which is responsible for the Emery-Dreifuss Muscular Dystrophy disease.

In PubMed, you can find articles that discuss the changes in the EMD gene and its related proteins that cause Emery-Dreifuss Muscular Dystrophy. These articles provide references to additional resources and databases, such as OMIM (Online Mendelian Inheritance in Man), which catalog the names, variants, and conditions associated with the EMD gene.

Scientific articles available on PubMed also cover topics such as the testing methods and resources for diagnosing Emery-Dreifuss Muscular Dystrophy. These articles discuss the use of genetic testing, electron microscopy, and clinical evaluations to identify the disease. They also provide information on the Emery-Dreifuss Muscular Dystrophy Registry for patients and families.

Researchers and healthcare professionals can benefit from the scientific articles on PubMed, as they provide valuable insights into the Emery-Dreifuss Muscular Dystrophy disease and the EMD gene. The articles cover topics ranging from the functions of EMD gene in the nucleus to its role in regulating the envelope proteins in muscle cells. This information can help in understanding the disease and developing potential therapies.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes, genetic changes, and associated diseases. It includes a collection of scientific articles, as well as information about testing and resources for specific conditions.

The catalog lists genes and their functions, along with variant names and additional references. It also provides information on diseases and conditions related to specific genes, such as Emery-Dreifuss muscular dystrophy.

For example, the EMD gene, which encodes the protein emerin, is listed in the catalog. Mutations in this gene are associated with Emery-Dreifuss muscular dystrophy, a disease characterized by muscle weakness and contractures. The catalog provides information on tests available for this condition, as well as the Emery-Dreifuss Muscular Dystrophy Registry.

The catalog is a valuable resource for researchers and healthcare professionals, as it provides up-to-date information on genes, genetic changes, and associated diseases. It also serves as a guide for understanding the functions of genes and proteins, as well as their role in regulating cellular processes.

In addition to the catalog, OMIM provides links to other genetic databases and resources, such as PubMed. This allows users to access additional information on specific genes and diseases, as well as scientific articles and publications.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for studying genes and diseases. It provides a wealth of information on genetic changes and their impact on health, making it an essential tool for researchers, healthcare professionals, and anyone interested in understanding the underlying causes of diseases.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals studying genetic diseases such as Emery-Dreifuss muscular dystrophy. These databases provide information on genes and variants associated with various conditions, including Emery-Dreifuss muscular dystrophy, and can help in the diagnosis and management of these diseases.

The databases contain information on genes related to Emery-Dreifuss muscular dystrophy, such as the EMD gene which codes for the emerin protein. They list the names of the genes, their genetic functions, and the proteins they produce. Additionally, the databases may include information on other related genes and their functions in the nucleus and envelope of cells.

The databases provide references to scientific articles, publications, and resources that provide further information on genes and variants associated with Emery-Dreifuss muscular dystrophy. These references can be useful for researchers and healthcare professionals who need to stay updated on the latest research and findings in the field.

In addition to gene and variant information, the databases may also include information on diagnostic tests and testing laboratories that offer genetic testing for Emery-Dreifuss muscular dystrophy. They may provide information on the types of tests available, the genes and variants they test for, and the conditions for which the tests are recommended. Some databases may also include a registry of individuals with Emery-Dreifuss muscular dystrophy for research purposes.

One of the most commonly used databases for gene and variant information is Online Mendelian Inheritance in Man (OMIM). This database provides comprehensive information on genes and genetic conditions, including Emery-Dreifuss muscular dystrophy. It includes information on the EMD gene, associated variants, and their clinical significance. OMIM provides links to relevant articles and resources for further reading.

Other databases for gene and variant information include PubMed and the GeneReviews database. PubMed is a comprehensive resource for scientific literature, including articles related to Emery-Dreifuss muscular dystrophy and its associated genes and variants. GeneReviews is a peer-reviewed resource that provides in-depth information on genetic diseases, including Emery-Dreifuss muscular dystrophy. It includes information on the clinical features, diagnosis, and management of the disease.

In conclusion, gene and variant databases are important resources for researchers and healthcare professionals studying Emery-Dreifuss muscular dystrophy and other genetic diseases. They provide essential information on genes, variants, functions, and diagnostic testing options. These databases, such as OMIM, PubMed, and GeneReviews, offer a wealth of information and references that can aid in the understanding and management of genetic diseases.

References

Emery-Dreifuss muscular dystrophy – Genetics Home Reference – NIH.
https://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy#resources

This website provides information on the genetics of Emery-Dreifuss muscular dystrophy, including explanations of the genes and proteins involved, as well as links to additional resources and databases.
OMIM Entry – #EMD – EMD GENE; EMD, TIS
https://www.omim.org/entry/310300

This entry in the Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the EMD gene, including its function, related diseases, and mutations associated with Emery-Dreifuss muscular dystrophy.
Tifft CJ. Emery-Dreifuss Muscular Dystrophy: GeneReviews®.
https://www.ncbi.nlm.nih.gov/books/NBK1436/

This GeneReviews article provides a comprehensive overview of Emery-Dreifuss muscular dystrophy, including detailed information on the EMD gene, testing procedures, and related conditions.
Emery-Dreifuss Muscular Dystrophy – PubMed – NCBI.
https://pubmed.ncbi.nlm.nih.gov/?term=Emery-Dreifuss+Muscular+Dystrophy

This PubMed search provides a list of scientific articles on Emery-Dreifuss muscular dystrophy, including studies on the EMD gene, its mutations, and its role in regulating nuclear envelope proteins.
Emery-Dreifuss Muscular Dystrophy – The National Center for Advancing Translational Sciences – NIH.
https://rarediseases.info.nih.gov/diseases/5645/emery-dreifuss-muscular-dystrophy

This website from the National Center for Advancing Translational Sciences provides general information on Emery-Dreifuss muscular dystrophy, including an overview of the disease, its symptoms, and available resources for testing and treatment.