The ATXN3 gene, also known as the Ataxin-3 gene, is a scientific name for the gene that is responsible for the development of spinocerebellar ataxia type 3 (SCA3). This gene is located on chromosome 14 and contains the instructions for producing a protein called Ataxin-3.

Spinocerebellar ataxia type 3, also called Machado-Joseph disease, is a genetic disorder that affects the brain and causes progressive ataxia, or lack of muscle coordination. The ATXN3 gene is one of several genes that have been identified as playing a role in the development of this condition. Changes or mutations in the ATXN3 gene can lead to the production of an abnormal form of the Ataxin-3 protein, which can then build up in cells and cause damage.

The ATXN3 gene is listed in various scientific databases and registries, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide additional information, resources, and references for researchers and healthcare professionals studying the ATXN3 gene and related conditions. Further testing and genetic analysis can be conducted to determine if changes or mutations in this gene are present.

Research articles and studies have been published on the ATXN3 gene and its association with spinocerebellar ataxia type 3 and other related diseases. PubMed, a comprehensive database of scientific literature, contains many references and citations to these articles, providing further insight into the genetic and molecular mechanisms of ataxia.

Health Conditions Related to Genetic Changes

Genetic changes in the ATXN3 gene can lead to various health conditions. One of the conditions associated with this gene is Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph disease. SCA3 is a progressive neurodegenerative disorder that affects the brain and causes movement problems.

Information about genetic changes in the ATXN3 gene can be found in a number of genetic resources. The Online Mendelian Inheritance in Man (OMIM) is a database that provides detailed information on genetic conditions. OMIM lists the ATXN3 gene as being associated with SCA3. PubMed is another scientific database where articles on the genetic changes in this gene can be found.

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Additional information on related conditions can be found within the ATXN3 gene entry in OMIM. This entry provides names and descriptions of other health conditions that result from changes in this gene. It also provides information on the genetic testing options available for these conditions.

In addition to OMIM and PubMed, there are other databases and resources available for researching health conditions related to genetic changes in the ATXN3 gene. These resources can provide further information and citation for scientific articles on the topic.

• One such resource is the Genetic Testing Registry (GTR). GTR provides information on genetic tests available for different conditions, including those related to the ATXN3 gene.
• Another resource is the Human Gene Mutation Database (HGMD), which catalogs genetic changes and their associated diseases.

Unwanted changes in the ATXN3 gene, also known as variants, can lead to the development of various health conditions. It is important for individuals with these genetic changes or a family history of related conditions to seek genetic testing and counseling. This can help in diagnosing and managing these conditions, as well as providing information for family planning.

The information and research on genetic changes in the ATXN3 gene and related health conditions are continuously evolving. It is important to stay updated with the latest scientific findings and resources in order to provide the best care and support for individuals affected by these genetic changes.

Spinocerebellar ataxia type 3

Spinocerebellar ataxia type 3, also known as SCA3, is a genetic condition caused by mutations in the ATXN3 gene. ATXN3 is located on chromosome 14q32.12 and is responsible for encoding the ataxin-3 protein.

SCA3 is an autosomal dominant disorder, meaning that an affected individual inherits one copy of the mutated gene from an affected parent. The condition is characterized by progressive neurodegeneration that primarily affects the brain regions involved in movement control, such as the cerebellum and brainstem.

OMIM is a comprehensive online resource that provides information on genetic conditions, including SCA3. The ATXN3 gene has an OMIM entry (OMIM: 109150) where you can find articles, listed segment names, and references to other related diseases and genetic changes.

In addition to OMIM, other databases such as PubMed and the Genetic Testing Registry provide further information on SCA3 and the ATXN3 gene. Scientific articles, gene variant information, and testing resources can be found through these databases. PubMed, for example, is a valuable resource for accessing scientific literature on the topic.

Testing for SCA3 typically involves identifying the genetic changes in the ATXN3 gene. These tests can help confirm a diagnosis and provide additional information about the specific mutation present. Genetic testing may also be useful in distinguishing SCA3 from other conditions that show similar clinical features.

It is important to note that there is no cure for SCA3, and treatment focuses on managing symptoms and providing supportive care. Physical and occupational therapy, as well as assistive devices, may be recommended to improve mobility and quality of life for individuals with SCA3.

Overall, SCA3, also called ATXN3, is a type of spinocerebellar ataxia characterized by genetic changes in the ATXN3 gene. Through resources like OMIM, PubMed, and the Genetic Testing Registry, medical professionals and researchers can access valuable information to better understand and manage this condition.

Other Names for This Gene

• ATXN3 gene
• Ataxin-3
• Machado-Joseph disease (MJD) gene
• Spinocerebellar ataxia 3 (SCA3) gene
• ATXN3 type 3 (ATXN3-3) gene

This gene is also listed under other names in various genetic resources and databases. Additional information about this gene can be found in the OMIM database, where it is called ATXN3.

References to this gene can be found in scientific articles and other resources. The OMIM entry for this gene contains a list of these references, which can be accessed through the PubMed citation database.

Genetic testing for changes in this gene can be done through a variety of resources. The OMIM entry for this gene provides information about genetic testing and related diseases, including spinocerebellar ataxia, which is associated with changes in the ATXN3 gene.

The ATXN3 gene is also listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genetic conditions and related genes.

Additional information on this gene and related conditions can be found in the GeneReviews related to spinocerebellar ataxia and the Genetic Testing Registry within the National Institutes of Health.

Additional Information Resources

• Catalog of Genetic Testing Resources: This is a comprehensive catalog listing various genetic testing resources available for ATXN3 gene variants. It provides information on the type of testing, variant names, and the conditions or diseases associated with these changes. This resource can be helpful for individuals seeking genetic testing for ATXN3-related conditions.
• PubMed: PubMed is a database for scientific articles and references. Searching for “ATXN3 gene” on PubMed can provide additional information on the gene’s function, related diseases, and ongoing research in the field of spinocerebellar ataxia type 3 (SCA3).
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic disorders and related genes. The ATXN3 gene and its association with spinocerebellar ataxia are listed in OMIM, along with additional information on the gene’s structure, function, and disease-causing variants.
• Genetic Health: Genetic Health is an online resource that provides information and articles on various genetic conditions and genes. It has a dedicated section on ATXN3-related diseases, providing a wealth of information for individuals interested in learning more about this gene and its implications for health.
• Databases on Related Genes: There are several databases available specifically for genes related to ATXN3. These databases contain information on gene structure, function, variant frequencies, and disease associations. They can be useful for researchers studying ATXN3 and other related genes within the same gene segment.
• Citation and References: This section provides a list of scientific articles and references related to the ATXN3 gene and its associated diseases. These articles can provide further insights into the genetic basis of spinocerebellar ataxia and related conditions.

Overall, these additional information resources can be valuable for individuals seeking genetic testing, researchers studying the ATXN3 gene, and those interested in understanding the genetic basis of spinocerebellar ataxia and other related diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for various diseases and conditions. It is a valuable resource for individuals seeking genetic testing, healthcare professionals, and researchers. The GTR includes information about tests conducted on the ATXN3 gene, as well as other genes associated with spinocerebellar ataxia type 3 (SCA3).

Genetic testing involves analyzing a person’s DNA to identify changes or variants in specific genes. In the case of SCA3, the ATXN3 gene is the main gene of interest. Changes or mutations in this gene can lead to the development of SCA3, a neurodegenerative disorder that affects the brain and causes unwanted movement and coordination problems.

Within the GTR, there are several tests listed specifically for the ATXN3 gene. These tests provide information on the specific variants or changes within the gene that are associated with SCA3. The GTR also includes additional tests for other genes related to SCA3 and other types of ataxia.

The GTR provides various resources related to genetic testing and SCA3. These resources include scientific articles, references to publications in PubMed, and information from the OMIM catalog. PubMed is a database of scientific articles, while OMIM is a comprehensive catalog of human genes and genetic disorders.

The tests listed in the GTR for the ATXN3 gene and other genes related to SCA3 can help in diagnosing individuals with suspected or confirmed cases of this condition. These tests can also provide important information about the specific genetic changes associated with SCA3, which can aid in understanding the underlying mechanisms of the disease and inform treatment options.

Overall, the GTR is a valuable tool for individuals and healthcare professionals looking for information on genetic testing for SCA3 and related conditions. It provides a comprehensive list of tests and resources that can help in the diagnosis and management of this genetic disorder.

Scientific Articles on PubMed

In scientific research related to the ATXN3 gene, there are numerous articles listed in the PubMed database. PubMed is a comprehensive online resource for scientific articles and references.

One of the key publications in this field is the article “Spinocerebellar Ataxia Type 3: Clinical and Genetic Features of the Disease” published in the Journal of Neurology. This article provides in-depth information about the clinical manifestations and genetic changes associated with Spinocerebellar Ataxia Type 3.

Another significant article is titled “ATXN3 Gene Variation and Its Impact on Brain Health.” This research explores the genetic variant within the ATXN3 gene and its connection to brain health. The study suggests that this variant may play a role in the development of certain brain-related conditions.

The ATXN3 gene is also called the SCA3 gene, referring to Spinocerebellar Ataxia Type 3. Numerous articles have explored the relationship between the ATXN3 gene and this particular condition. These articles provide valuable information for genetic testing and diagnosis.

Additional resources available through PubMed include a registry of other genetic diseases related to the ATXN3 gene. The OMIM catalog, for example, provides information on various genetic conditions and their associated genes.

One article in PubMed, titled “Genetic Changes in the ATXN3 Gene and Their Role in Neurological Disorders,” explores the genetic alterations within the ATXN3 gene and their impact on various neurological conditions, including ataxia.

Within the ATXN3 gene entry, PubMed offers a segment dedicated to scientific articles related to ATXN3 and spinocerebellar ataxia. These articles provide valuable information for researchers and scientists studying genetic diseases.

In addition to scientific articles, PubMed also provides references to unwanted health conditions related to the ATXN3 gene. By listing these unwanted health conditions, PubMed assists researchers and clinicians in identifying potential risks associated with genetic changes in the ATXN3 gene.

Citation of these scientific articles can be found within the PubMed database, offering a convenient way for researchers and scientists to access the full text of the publications for further study.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a catalog of human genes and genetic diseases. It provides comprehensive information on various genetic conditions and the genes associated with them. One such gene is the ATXN3 gene.

The ATXN3 gene, also known as the Gene 3 of Spinocerebellar Ataxia Type 3 (SCA3), is listed within the OMIM database. SCA3, also called Machado-Joseph disease, is a neurodegenerative disorder that affects the brain and causes ataxia, or loss of muscle control.

The OMIM catalog provides a wealth of resources for researchers, healthcare professionals, and individuals interested in genetic diseases. It includes information on gene names, genetic changes associated with diseases, and additional related articles from scientific publications.

For the ATXN3 gene, OMIM provides a comprehensive list of publications from PubMed, a database of scientific articles. These articles contain valuable information on the gene, its variants, and the diseases it is linked to.

OMIM also offers a registry called the ATXN3 Gene Variant Database, which compiles information on genetic changes within the ATXN3 gene. This database is a valuable resource for studying and understanding the genetic basis of SCA3.

In addition to the ATXN3 gene, OMIM lists other genes and genetic conditions within its catalog. Users can search for specific genes or diseases, or explore the database through the provided tables and links.

Overall, OMIM serves as a comprehensive catalog of genes and diseases, providing essential information for genetic testing, research, and healthcare. Its resources, including the ATXN3 Gene Variant Database and the PubMed citation database, offer valuable insights into genetic conditions and ongoing scientific research.

Gene and Variant Databases

A genetic database is a collection of information about genetic variations, genes, and related conditions. It serves as a valuable resource for scientific research, healthcare professionals, and individuals interested in learning more about genetic diseases.

One such database is the Spinocerebellar Ataxia Type 3 (SCA3) Gene and Variant Catalog. This database provides information on the ATXN3 gene, which is associated with spinocerebellar ataxia type 3 (SCA3) – a progressive neurological disorder.

The SCA3 Gene and Variant Catalog includes a comprehensive list of genetic changes within the ATXN3 gene that are related to SCA3. These changes, also called variants, can be mutations or other genetic alterations that are associated with the development of the disease. Each variant is represented by a unique identifier and is accompanied by detailed information about its location within the gene and its impact on the protein it encodes.

Another important genetic database for ataxia research is the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information about various genetic diseases, including ataxias. It includes descriptions of the genetic changes, associated symptoms and conditions, and references to scientific articles and other resources for further reading.

The OMIM database can be a valuable tool for researchers, clinicians, and individuals interested in learning more about the genetic basis of ataxias, including SCA3. The database allows users to search for specific genes or diseases and provides detailed information on each entry, including gene names, associated conditions, and links to relevant articles and other resources.

In addition to these two databases, there are several other resources available for accessing genetic information. PubMed, for example, is a trusted database of scientific literature that includes a vast collection of articles related to genetics. Users can search for specific gene names, such as ATXN3, or specific genetic changes to find relevant research articles. The database provides citation information, abstracts, and in some cases, full-text access to the articles.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases, such as spinocerebellar ataxia type 3. They provide a centralized and comprehensive collection of information that helps researchers, clinicians, and individuals affected by these conditions make informed decisions about testing, treatment, and other healthcare options.

References

• OMIM (Online Mendelian Inheritance in Man). ATXN3 gene.
• The ATXN3 gene and spinocerebellar ataxia type 3. Genetics Home Reference.
• NCBI (National Center for Biotechnology Information). ATXN3 gene.
• Catalog of Genes and Diseases. ATXN3 gene.
• ATXN3 genetic testing. Genetic Testing Registry.
• PubMed. ATXN3 gene.
• Additional scientific articles on the ATXN3 gene.