The FXN gene is related to the health and is not fully understood. It is also referred to as the Friedreich Ataxia (FRDA) gene. The FXN gene is listed in the OMIM database, which contains information on genetic diseases. It is one of the genes that is associated with Friedreich Ataxia, a genetic disorder characterized by neurological problems and muscle weakness. Testing for changes in the FXN gene can be done to identify the presence of Friedreich Ataxia or other related conditions.

There are free scientific resources available for accessing information on the FXN gene. This includes the NCBI Gene database, where the FXN gene is listed along with other variant names. The FXN gene can also be found in PubMed, a database of scientific articles. Building on the information from these databases, additional gene resources such as the Genetic Testing Registry can provide testing information for changes in the FXN gene.

Proteins encoded by the FXN gene are involved in mitochondrial function and iron homeostasis. Changes in the FXN gene can lead to a decrease in the production of functional frataxin protein, resulting in the symptoms seen in Friedreich Ataxia. Understanding the genetic changes in the FXN gene is crucial for diagnosis and treatment of Friedreich Ataxia and related conditions. More research and studies are needed to fully understand the role of the FXN gene in health and disease.

Health Conditions Related to Genetic Changes

The FXN gene is responsible for producing the frataxin protein, which is involved in the normal functioning of mitochondria. Genetic changes or mutations within this gene can lead to various health conditions.

• Friedreich ataxia: This is a progressive neurodegenerative disorder characterized by loss of muscle coordination and other symptoms. It is caused by changes in the FXN gene.

To explore the different health conditions related to genetic changes in the FXN gene, researchers and healthcare professionals rely on building databases and utilizing various resources.

• Genetic databases: These databases collect genetic data from individuals with different diseases and provide a valuable resource for studying the relationship between genetic changes and health conditions.
• Genetic testing: Genetic testing can detect changes within the FXN gene and help diagnose or predict the risk of developing certain health conditions.

Scientific articles and publications also play a crucial role in understanding the genetic changes related to health conditions.

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• PubMed: This database provides a vast collection of scientific articles and references on genetics and related topics. Researchers can search for publications specifically on the FXN gene and its associated health conditions.

One widely used resource for researching genetic conditions is the Online Mendelian Inheritance in Man (OMIM) database.

• OMIM: OMIM provides detailed information on different genetic conditions and the genes involved. It includes information on the FXN gene and the health conditions associated with changes in this gene.

Furthermore, researchers can refer to the GeneTests website for additional information and resources on genetic testing and related health conditions.

By studying the genetic changes within the FXN gene, scientists aim to better understand the underlying mechanisms of the associated health conditions and develop effective treatments and therapies.

Friedreich ataxia

Friedreich ataxia (FRDA) is a genetic disease that affects the nervous system. It is caused by a mutation in the FXN gene, which is responsible for producing a protein called frataxin. The mutation leads to a decrease in the production of frataxin, resulting in the symptoms of Friedreich ataxia.

Frataxin is involved in the function of mitochondria, the powerhouses of cells. Without enough frataxin, the mitochondria cannot produce energy effectively, leading to the degeneration of nerve cells.

Friedreich ataxia is characterized by progressive loss of muscle coordination (ataxia), muscle weakness, and other symptoms such as impaired speech and hearing loss. The severity and progression of the disease can vary, with some individuals experiencing more severe symptoms than others.

Diagnosis of Friedreich ataxia is typically done through genetic testing. This involves analyzing the patient’s DNA for changes in the FXN gene. Several resources and databases are available for this type of genetic testing, including the OMIM database, which provides information on genes, genetic diseases, and their associated symptoms.

Genetic testing can also be done through commercial laboratories or academic institutions that offer DNA sequencing services. These tests can detect changes in the FXN gene, as well as other genetic variants and conditions.

In addition to genetic testing, other tests may be done to assess the extent of nerve damage and to rule out other conditions that may cause similar symptoms. This may include imaging tests such as MRI or CT scans, as well as nerve conduction studies.

There is currently no cure for Friedreich ataxia, and treatment is focused on managing symptoms and improving quality of life. This may involve physical therapy to improve muscle strength and coordination, speech therapy to address speech difficulties, and the use of assistive devices to aid in mobility.

Individuals with Friedreich ataxia may also benefit from genetic counseling, which can provide information on the inheritance patterns of the disease and help individuals make informed decisions about family planning.

For more information on Friedreich ataxia, you can refer to the following resources:

• The National Ataxia Foundation (www.ataxia.org)
• The Friedreich’s Ataxia Research Alliance (www.curefa.org)
• The FRDA Patient Registry (www.frda-cure.org)
• The OMIM database (www.omim.org)
• The GeneTests website (www.genetests.org)
• The PubMed database (www.ncbi.nlm.nih.gov/pubmed)

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Additional Information Resources

For more information on the FXN gene and related conditions, the following resources are available:

• Friedreich Ataxia Research Alliance (FARA) – FARA is a non-profit organization that provides information, resources, and support for individuals and families affected by Friedreich ataxia. They offer a variety of educational materials, support services, and research updates. More information can be found on their website: www.curefa.org.
• Genetic Testing Registry (GTR) – GTR is a database that provides information on genetic tests for a variety of conditions. By searching for “FXN gene” or “Friedreich ataxia,” you can find a list of available tests and laboratories that offer them. GTR can be accessed at: www.ncbi.nlm.nih.gov/gtr.
• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database that provides information on genetic conditions, including Friedreich ataxia. By searching for the FXN gene or Friedreich ataxia, you can find a detailed description of the gene, associated variants, and related articles. OMIM can be accessed at: www.omim.org.
• PubMed – PubMed is a resource for accessing scientific articles and publications. By searching for “FXN gene” or “Friedreich ataxia,” you can find a list of research articles and studies related to the gene and its associated conditions. PubMed can be accessed at: www.ncbi.nlm.nih.gov/pubmed.
• Friedreich Ataxia Research News – Friedreich Ataxia Research News is an online platform that provides news, articles, and updates on the latest research in Friedreich ataxia. They cover topics such as new treatments, clinical trials, and advancements in understanding the disease. More information can be found on their website: www.friedreichsataxianews.com.

These are just a few of the many resources available for those seeking additional information on the FXN gene, Friedreich ataxia, and related conditions. By utilizing these resources, individuals can stay informed on the latest research, testing options, and available support.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in evaluating health conditions related to the FXN gene. These tests are listed in various genetic testing databases to provide comprehensive information and aid in further research and understanding.

The Genetic Testing Registry (GTR) is a valuable resource that collects and indexes genetic test information from a variety of sources. It serves as a central catalog for genetic tests and their associated conditions, genes, proteins, and variants.

Within the GTR, there are tests specifically related to the FXN gene. These tests provide information on changes or variants within the gene and their implications for the development of Friedreich ataxia, a neurodegenerative disorder. This information is essential for healthcare professionals and researchers working on the condition.

The GTR provides additional resources, such as scientific references and links to related databases like OMIM (Online Mendelian Inheritance in Man). These resources contribute to a better understanding of the genetics and biology underlying Friedreich ataxia and other related conditions.

Tests listed in the GTR are continually updated, reflecting the latest scientific findings and advancements in genetic testing technology. The GTR allows users to search for tests based on specific conditions, genes, or variants and provides a comprehensive listing of available tests for further exploration and research.

The information provided through the GTR is freely accessible and serves as a valuable tool for healthcare professionals, researchers, and individuals seeking genetic testing options or looking for information on specific genetic conditions.

Building a Catalog of Genetic Tests

The GTR not only lists tests related to the FXN gene but also includes tests for other genes and associated conditions. By compiling this comprehensive catalog, the GTR facilitates easy access to a vast array of genetic testing options.

Researchers and healthcare professionals can use the GTR to identify relevant genetic tests for their patients, aiding in accurate diagnosis and personalized treatment plans. Moreover, the GTR contributes to the understanding of various genetic conditions and aids in expanding scientific knowledge in the field of genetics.

By centralizing important genetic testing information and providing comprehensive resources, the GTR plays a crucial role in advancing genetic research and improving healthcare outcomes.

References

• Genetic Testing Registry (GTR). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/.

• Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/.

Scientific Articles on PubMed

PubMed is a freely accessible online database that provides a wealth of scientific articles on various topics. Among these articles, a significant number are related to the FXN gene and its associated conditions. The FXN gene, also known as the frataxin gene, is responsible for producing a protein called frataxin. Changes or mutations in this gene can lead to a range of diseases, with Friedreich ataxia being the most well-known.

Scientific articles on PubMed provide valuable information on a variety of topics related to the FXN gene. These articles cover a broad range of research, including genetic testing, clinical trials, and studies exploring the underlying mechanisms of Friedreich ataxia and other conditions associated with changes in the FXN gene.

Building on the information available in these articles, researchers and healthcare professionals can better understand the specific changes in the FXN gene that lead to various conditions. This knowledge is crucial for developing targeted treatments and interventions to improve the health and well-being of individuals affected by these conditions.

The FXN gene is part of a cluster of genes located on chromosome 9. In addition to Friedreich ataxia, changes in the FXN gene have also been linked to other conditions, such as cardiomyopathy, diabetes, and hearing loss. By studying the FXN gene and its associated conditions, researchers can uncover insights into these related health issues.

PubMed provides references to scientific articles from various sources, including the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders. The articles listed on PubMed may also refer to other genes related to this gene cluster on chromosome 9.

In conclusion, PubMed is a valuable resource for accessing scientific articles on the FXN gene and its associated conditions. These articles provide important information that contributes to our understanding of the proteins produced by the FXN gene, the role of this gene in various diseases, and the testing and management of these conditions. Researchers and healthcare professionals can rely on the wealth of information available in these articles to advance their knowledge and improve patient care.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and their associated diseases. This catalog serves as a valuable resource for researchers, clinicians, and individuals seeking information on genetic disorders.

OMIM, or Online Mendelian Inheritance in Man, is a database that compiles information about genes and genetic disorders. It is a widely used resource for obtaining detailed information about specific genes and the diseases they are associated with.

The catalog includes genes and their corresponding disease names, allowing users to search for diseases by gene mutations or for genes associated with specific diseases. OMIM provides detailed information on the genetic changes within each gene, including variant names, genomic location, and functional consequences.

An important feature of the catalog is the inclusion of repeated or related genes. Often, a single gene may be associated with multiple diseases or a particular disease may be caused by mutations in multiple genes. The catalog helps to identify these relationships and provides essential information on the genetic basis of various conditions.

In the case of the FXN gene, which is associated with Friedreich ataxia, the catalog provides insights into the genetic changes within the gene. It lists the specific variants that have been identified in patients with Friedreich ataxia and provides information on the functional consequences of these changes.

In addition to the information on specific genes and diseases, the catalog also includes references to scientific articles and other resources. These references may include articles that have reported on the discovery or characterization of the gene, clinical studies on the disease, or research on related genes or conditions. Users can access these references to gather additional information on the genes and diseases of interest.

The catalog is a valuable tool for genetic testing laboratories and clinicians. It allows them to quickly access information on genes and diseases, aiding in the interpretation of genetic test results and facilitating diagnosis and management of genetic disorders.

Overall, the Catalog of Genes and Diseases from OMIM serves as a centralized and comprehensive resource for information on genes and genetic diseases. By building upon the scientific knowledge and understanding of these conditions, the catalog enables researchers, clinicians, and individuals to better comprehend and address genetic disorders.

Gene and Variant Databases

The FXN gene is associated with various conditions and changes in its structure can lead to multiple health issues. Gene and variant databases serve as valuable resources for understanding the genetic basis of these diseases. They provide information on gene variants, testing methods, and related scientific articles.

One such database is OMIM (Online Mendelian Inheritance in Man), which catalogs information on genes and genetic disorders. It includes references to articles from scientific journals and references OMIM numbers for diseases associated with the FXN gene.

Another database that is often referred to is PubMed, a collection of articles on biomedical research. PubMed allows users to search for literature related to specific genes or diseases, providing a wealth of information on the FXN gene and its related disorders.

In addition to these databases, there are also specialized gene and variant databases specifically focused on the FXN gene. These databases provide comprehensive information on specific genetic changes, their associated diseases, and testing methods.

The National Ataxia Foundation’s Gene Registry is one example of a gene-specific database. It provides information on the FXN gene, its related diseases, and available testing options for individuals with symptoms of ataxia.

Furthermore, there are resources that provide information on protein clusters and building blocks within the FXN gene. Understanding the proteins encoded by this gene is crucial for comprehending the mechanisms underlying Friedreich ataxia and other related conditions.

In summary, gene and variant databases are vital tools for researchers and healthcare professionals working with the FXN gene. These databases provide comprehensive information on genetic changes, associated diseases, and testing options. They allow for a deeper understanding of the underlying mechanisms and facilitate further research in the field.

References

• GenBank: a genetic sequence database for the Friedreich ataxia gene (FXN) and related genes.
• OMIM: a catalog of human genes and genetic disorders providing information on the FXN gene and the associated diseases.
• The Friedreich Ataxia Research Alliance (FARA): a registry and scientific organization focused on understanding and finding a cure for Friedreich ataxia.
• Genetests: a free resource for information on genetic testing for Friedreich ataxia and other related conditions.
• Genetic and Rare Diseases Information Center (GARD): a database providing information on the FXN gene, Friedreich ataxia, and other related diseases.
• Building a mapping panel for Friedreich’s ataxia to establish genotype-phenotype correlations.
• Scientific articles and publications on the FXN gene and its role in Friedreich ataxia.
• Friedreich Ataxia Research News: a source of updates and news on the latest research and developments in Friedreich ataxia and related conditions.
• Clusters of variant changes in Friedreich ataxia patients.
• The National Ataxia Foundation: a non-profit organization providing support, resources, and information for individuals and families affected by ataxia, including Friedreich ataxia.