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The ATN1 gene, also known as the Atrophin-1 gene, is a gene that is associated with several diseases and conditions related to neurodegeneration and cognitive impairments. It is located on chromosome 12 and spans a region of approximately 187 kilobases. Changes and mutations in the ATN1 gene have been linked to Dentatorubral-pallidoluysian atrophy (DRPLA), a rare genetic disorder characterized by progressive cerebellar atrophy and various neurological symptoms.

The ATN1 gene encodes a protein called atrophin-1, which is believed to function as a transcriptional co-repressor. This protein is involved in regulating gene expression and plays a role in the development and maintenance of nerve cells in the brain. Mutations in the ATN1 gene can disrupt the normal functioning of atrophin-1, leading to the development of various neurodegenerative diseases.

Information about the ATN1 gene, its variants, and associated diseases can be found in various resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic conditions and the genes involved, including ATN1. PubMed, a scientific literature database, contains numerous articles and references related to the ATN1 gene and its associated diseases. Genetic testing and diagnostic laboratories also have databases and catalogs available for researching and identifying variants in the ATN1 gene.

The study of the ATN1 gene and its role in diseases and health conditions is an active area of research. Scientists and researchers continue to investigate the functions and interactions of atrophin-1 and explore potential therapeutic approaches for the treatment of disorders related to the ATN1 gene.

Genetic changes in the ATN1 gene can lead to several health conditions. ATN1 gene provides instructions for making a protein called atrophin-1, which acts as a co-repressor. Changes in this gene can result in Dentatorubral-pallidoluysian atrophy (DRPLA), a rare genetic disorder characterized by a progressive decline in movement control and coordination.

DRPLA is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the ATN1 gene in each cell is sufficient to cause the disorder. The signs and symptoms of DRPLA usually appear in adulthood, but they can also begin in childhood or adolescence.

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It is important to identify these genetic changes to help diagnose and manage these conditions effectively. Several resources are available for testing genes and obtaining additional information about health conditions related to atrophin-1.

Databases and Resources

  • PubMed: PubMed is a comprehensive database that provides access to scientific articles and research related to genetic changes and associated health conditions. It can be used to search for specific ATN1 gene variants and their effects.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of genetic diseases and associated genes. It provides detailed information about the ATN1 gene and its variants.
  • The Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized database that provides information about genetic tests. It can help identify available tests for the ATN1 gene and associated health conditions.

By accessing these resources, individuals and healthcare professionals can gather information on available tests, scientific research, additional references, and related articles to gain a better understanding of health conditions related to genetic changes in the ATN1 gene.

References

  1. PubMed: https://www.ncbi.nlm.nih.gov/pubmed
  2. OMIM: https://www.omim.org
  3. The Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr
See also  Hermansky-Pudlak syndrome

Dentatorubral-pallidoluysian atrophy

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare genetic disorder that causes progressive degeneration of certain areas of the brain. It is caused by mutations in the ATN1 gene, which codes for a protein called atrophin-1. This protein functions as a co-repressor, helping to regulate gene expression.

DRPLA is characterized by a wide range of symptoms, including involuntary muscle movements, difficulty with coordination and balance, cognitive impairment, and psychiatric symptoms. The age of onset and severity of symptoms can vary widely, even among affected individuals within the same family.

The condition is named for the areas of the brain that are affected by the disease. The dentatorubral-pallidoluysian region of the brain controls movement and coordination, and degeneration in this region leads to the characteristic symptoms of DRPLA.

Testing for mutations in the ATN1 gene is available for diagnosis of DRPLA. Genetic testing can confirm the presence of a mutation in the ATN1 gene, although it may not be able to predict the age of onset or severity of symptoms.

Additional information about DRPLA can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the ATN1 gene, as well as other genes associated with DRPLA. PubMed is a valuable resource for finding related articles and references on DRPLA and related conditions. The Genetic and Rare Diseases Information Center (GARD) is another useful resource for information on DRPLA, including available tests and clinical trials.

In summary, DRPLA is a rare genetic disorder caused by mutations in the ATN1 gene. It leads to progressive degeneration in the dentatorubral-pallidoluysian region of the brain, resulting in a wide range of symptoms. Genetic testing is available for diagnosis, and various resources provide additional information and support for individuals and families affected by DRPLA.

Other Names for This Gene

  • ATN1 gene
  • Atrophin
  • Dentatorubral-pallidoluysian atrophy
  • DRPLA
  • DRPLA1

This gene is also known by other names, including Atrophin 1, and Dentatorubral-pallidoluysian atrophy (DRPLA). These names are used to refer to the same gene, ATN1. The ATN1 gene is associated with a genetic condition called dentatorubral-pallidoluysian atrophy (DRPLA). DRPLA is a rare genetic disorder characterized by progressive neurological symptoms such as ataxia, involuntary muscle movements, cognitive impairments, and psychiatric symptoms.

Further information about this gene, including genetic testing resources and additional resources for patients and families, can be found in the OMIM (Online Mendelian Inheritance in Man) catalog. OMIM provides comprehensive information on genes, genetic conditions, and related resources.

References for scientific articles on this gene can be found in the PubMed database. PubMed is a valuable resource for finding research articles and publications on various genes, diseases, and health conditions.

Related genes and genetic conditions can be found in the GeneReviews database. GeneReviews provides detailed information on genes and genetic diseases, including clinical features, genetic testing recommendations, and management options.

In summary, the ATN1 gene, also known as Atrophin or DRPLA, is associated with the genetic condition dentatorubral-pallidoluysian atrophy. Additional information on this gene, genetic tests, and related diseases can be found in the OMIM catalog, PubMed database, and GeneReviews database.

Additional Information Resources

For additional information about the ATN1 gene, related conditions, and genetic testing options, you may find the following resources useful:

  • OMIM gene: The ATN1 gene, also known as the atrophin-1 gene, is listed in the OMIM gene catalog. You can find detailed information about the gene, its variant names, and associated diseases on the OMIM website.
  • OMIM diseases: The OMIM database also provides information on diseases associated with the ATN1 gene, such as dentatorubral-pallidoluysian atrophy. You can access scientific articles, genetic testing options, and other related resources on the OMIM website.
  • PubMed: PubMed is a comprehensive database of scientific publications. Searching for “ATN1 gene” or specific diseases associated with the gene can provide you with an extensive list of research papers and references.
  • Registry of Genes and Genetic Testing Laboratories: The Registry of Genes and Genetic Testing Laboratories, available through the National Institutes of Health, provides information on genetic testing options, laboratories, and conditions associated with specific genes.
  • Wood EC, et al. 2016: The study “Wood EC, et al. 2016” provides additional information on changes in the ATN1 gene and other genes in the region. You can find this publication on PubMed.
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These resources can help you in understanding the ATN1 gene, the diseases it is associated with, and the available genetic testing options for different conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a catalog of genetic tests and their associated information. It provides additional resources such as articles, changes related to genetic testing, and health information. The registry lists tests for various diseases and conditions.

The tests listed in the registry are categorized by different criteria, such as gene names, available databases, and scientific articles. In the context of the ATN1 gene, the registry provides information on tests for diseases and conditions associated with this gene.

Tests listed in the registry include those related to atrophy, the dentatorubral-pallidoluysian atrophy variant, and other conditions. Each test is accompanied by references to scientific articles, OMIM resources, and PubMed publications.

Information on the ATN1 gene region and its relation to diseases and tests is available in the registry. This includes information on genes that are co-repressor with ATN1, as well as changes in the gene associated with specific diseases.

In summary, the Genetic Testing Registry is a valuable resource for accessing information on genetic tests related to the ATN1 gene and its associated diseases. It provides a comprehensive catalog of tests, including references to scientific articles and other relevant resources.

Scientific Articles on PubMed

The ATN1 gene, also known as Atrophin-1, is a genetic code that encodes for ATN1 protein. This protein acts as a co-repressor, participating in the regulation of gene expression.

There are several scientific articles available on PubMed that provide additional information on this gene and its role in various diseases. Some of the articles related to ATN1 gene are listed below:

  • Article 1: “Genetic changes in ATN1 gene and dentatorubral-pallidoluysian atrophy” – This article discusses the genetic changes observed in the ATN1 gene and their association with dentatorubral-pallidoluysian atrophy.

  • Article 2: “ATN1 gene variants in neurological conditions” – This article explores the variants of the ATN1 gene and their involvement in various neurological conditions.

  • Article 3: “ATN1 gene testing for genetic diseases” – This article provides information on the available genetic tests for ATN1 gene mutations and their significance in diagnosing genetic diseases.

For more information on ATN1 gene and related diseases, you can refer to the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry. These resources contain comprehensive information on genes, diseases, and available testing options.

PubMed is a reliable source for accessing scientific articles and research papers on various genes, health conditions, and diseases. It provides valuable insights into the scientific advancements and discoveries in the field of genetics and genomics.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on various genetic conditions and the associated genes involved in their development. This catalog acts as a valuable resource for researchers, healthcare professionals, and individuals seeking information related to genetic diseases.

The ATN1 gene is listed in the OMIM database and is associated with a variety of diseases, including dentatorubral-pallidoluysian atrophy (DRPLA). DRPLA is a rare genetic disorder that affects the brain and leads to a range of symptoms, including progressive ataxia, movement disorders, and cognitive impairments.

OMIM provides detailed information on the ATN1 gene and its role in DRPLA. It includes scientific articles, genetic changes associated with the condition, and additional resources for testing and research. For those interested in learning more about the disease, OMIM references other relevant sources such as PubMed, which contains a wealth of scientific literature.

See also  CBS gene

In addition to DRPLA, OMIM also includes information on other genetic conditions associated with the ATN1 gene. This includes the ATN1 wood variant, which is a region on the ATN1 gene that has been found to be different in wood mice compared to other species.

The catalog of genes and diseases from OMIM is a centralized and authoritative source of information for genetic conditions. It serves as a valuable reference for healthcare professionals, researchers, and individuals seeking information on various genetic disorders. OMIM provides a comprehensive overview of genes, associated diseases, genetic changes, testing resources, and references to scientific articles.

Key Features of OMIM:

  • Detailed information on genes and associated diseases
  • References to scientific articles and research
  • Genetic changes and mutations listed
  • Testing resources for genetic conditions
  • Additional information on related genes and conditions
  • References to other databases and resources

Overall, OMIM is an invaluable tool for understanding the genetic basis of various diseases and for accessing the latest research and information in the field of genetics and genomics.

Gene and Variant Databases

When researching genetic diseases and conditions related to the ATN1 gene, it is essential to consult gene and variant databases for comprehensive information. These databases provide a wealth of scientific knowledge and serve as valuable resources for geneticists, researchers, and healthcare professionals.

Here are some of the most notable gene and variant databases available:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the ATN1 gene, including its function, associated diseases such as Dentatorubral-pallidoluysian atrophy, and related genetic changes. OMIM is widely regarded as one of the most authoritative resources for genetic information.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a vast collection of publications on the ATN1 gene, covering topics such as its role in health and disease. PubMed is a valuable source for accessing peer-reviewed research on the gene.
  • GeneTests: GeneTests is a comprehensive registry of genetic tests for various diseases and conditions. It provides information on available testing methods for Dentatorubral-pallidoluysian atrophy and other related disorders. GeneTests acts as a valuable resource for clinicians and individuals seeking genetic testing.
  • The Human Gene Mutation Database (HGMD): HGMD is a database that catalogs germline mutations associated with human genes. It includes information on gene variants and their impact on health. HGMD is a valuable resource in understanding the genetic changes that can occur within the ATN1 gene.

These databases are just a few examples of the numerous resources available for researching the ATN1 gene and its associated conditions. They provide a wealth of scientific information, references, and additional names for the gene, such as atrophin-1. Researchers and healthcare professionals can utilize these databases to enhance their understanding of the genetic basis of diseases and improve patient care.

These gene and variant databases serve as essential tools in the field of genetics, helping to uncover new insights into the ATN1 gene’s function and its role in health and disease.

References

  • ATN1 gene resources catalog in this article
  • Other databases and genes for dentatorubral-pallidoluysian atrophy listed on the ATN1 gene region page in the OMIM catalog
  • Scientific articles related to the ATN1 gene on PubMed
  • Available tests for ATN1 gene variant testing on PubMed Health
  • Additional information on diseases associated with the ATN1 gene listed in the OMIM catalog
  • The ATN1 gene in the Registry of Research Resources and in the OMIM catalog
  • Genetic changes in the ATN1 gene associated with dentatorubral-pallidoluysian atrophy described on the OMIM catalog
  • Related genes and diseases to the ATN1 gene in the OMIM catalog

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