ATXN1 gene

The ATXN1 gene is a genetic segment that codes for the ataxin-1 protein. This gene has been found to undergo changes, known as variants or mutations, that can lead to various diseases and conditions.

One of the well-known conditions associated with changes in the ATXN1 gene is spinocerebellar ataxia type 1 (SCA1). SCA1 is a genetic disorder that affects the central nervous system, specifically the cerebellum and its connections to other parts of the brain.

Genetic testing of the ATXN1 gene can provide valuable information for research and health purposes. Scientific articles, as well as databases such as OMIM and PubMed, list references for further information on ATXN1 and its related diseases.

Additional resources, such as the International Registry of Central Pontine and Extrapontine Myelinolysis and Ataxia (IRCPEMA) and the Spinocerebellar Ataxia Type 1 (SCA1) Variant ATXN1 Catalog, can also provide information on testing, variant names, and related articles on spinocerebellar ataxia type 1.

In conclusion, the ATXN1 gene plays a significant role in the development of spinocerebellar ataxia type 1 and other related conditions. The scientific community continues to study and research this gene to improve our understanding of the underlying mechanisms and develop effective treatments.

Health Conditions Related to Genetic Changes

Genetic changes in the ATXN1 gene have been associated with several health conditions. These changes can cause a segment of the gene to repeat more times than normal, which leads to the production of abnormal proteins.

One of the health conditions related to changes in the ATXN1 gene is spinocerebellar ataxia type 1 (SCA1), a progressive brain disorder characterized by the degeneration of certain neurons in the brain and spinal cord. People with SCA1 may experience problems with coordination, balance, and speech.

Other diseases and conditions listed in the OMIM (Online Mendelian Inheritance in Man) database that are related to changes in the ATXN1 gene include:

  • Spinocerebellar ataxia type 1
  • Spinocerebellar ataxia type 1, autosomal dominant
  • Spinocerebellar ataxia 1
  • SCA1

These genetic changes can be detected through genetic testing. The ATXN1 gene can be analyzed to identify any abnormalities or variants in its sequence.

For additional information on health conditions related to the genetic changes in the ATXN1 gene, references to scientific articles and resources can be found in the PubMed and OMIM databases. The ATXN1 gene is also included in various genetic testing panels and disease registries.

Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 1 (SCA1) is a genetic neurological disorder caused by mutations in the ATXN1 gene. Mutations in this gene lead to the production of abnormal ataxin-1 protein, which is toxic to cells in the central nervous system.

SCA1 is one of the many types of spinocerebellar ataxia (SCA) disorders, which are characterized by the progressive degeneration of the cerebellum and other parts of the brain. Symptoms of SCA1 include poor coordination, difficulties with speech and swallowing, muscle weakness, and impaired eye movements.

The ATXN1 gene, also known as the ATXN1H gene, is located on chromosome 6. It encodes a protein called ataxin-1, which is primarily found in the cerebellum, specifically in Purkinje cells. These cells play a crucial role in coordinating movement and maintaining balance.

SCA1 is inherited in an autosomal dominant pattern, which means that a person with just one copy of the mutated ATXN1 gene will develop the disease. The severity and age of onset of SCA1 can vary among affected individuals, even within the same family.

More information about SCA1 and other related diseases can be found in various scientific databases and resources. OMIM (Online Mendelian Inheritance in Man), for example, provides a comprehensive catalog of genetic disorders and related genes. PubMed is another useful resource for accessing scientific articles and references on SCA1 and related conditions.

Genetic testing is available to identify mutations in the ATXN1 gene and confirm a diagnosis of SCA1. These tests can also help determine if other family members are at risk of developing the condition.

In addition to genetic testing, there are other resources available for individuals and families affected by SCA1. Support groups and patient registries provide a platform for sharing experiences and accessing information about the disease. These organizations can also offer guidance on managing symptoms and finding appropriate medical care.

Further research is underway to better understand the underlying mechanisms of SCA1 and develop potential treatments. Scientists are exploring various strategies to target the toxic effects of the mutant ataxin-1 protein and potentially slow or halt the progression of the disease.

Other Names for This Gene

The ATXN1 gene is also known by several other names:

  • Purkinje cell protein 1 (PCP1)
  • Spinocerebellar ataxia type 1 (SCA1)
  • Spinocerebellar ataxia type 1 protein (SCA1)
  • Spinocerebellar ataxia type 1-related variant (SCA1)
  • Spinocerebellar ataxia 1

These names reflect its association with various conditions and genetic changes. The ATXN1 gene is primarily involved in the development of spinocerebellar ataxia type 1, a type of genetic ataxia characterized by progressive changes in the brain and central nervous system.

In scientific literature and genetic databases, you may find this gene listed by these names. The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other resources often provide detailed information and articles related to the ATXN1 gene and its associated conditions.

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Testing for genetic variants in the ATXN1 gene can be performed through various genetic testing laboratories and clinical tests. These tests aim to identify any changes or mutations in the gene that may be related to spinocerebellar ataxia type 1 or other related conditions.

Additional Information Resources

In addition to the information provided in this article, there are several databases and resources that can provide further details on the ATXN1 gene and related topics. These resources can be helpful for researchers, healthcare professionals, and individuals looking for more information about genetic changes, diseases, and testing.

  • PubMed: PubMed is a comprehensive database of scientific articles. Searching for “ATXN1 gene” or related keywords can provide access to a wide range of research papers and studies.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic conditions. The ATXN1 gene and its related diseases may be listed on this database.
  • ATXN1 Gene Variant Database: This database specifically focuses on genetic variants in the ATXN1 gene. It may provide more detailed information about specific variant names and their associated effects.
  • Spinocerebellar Ataxia (SCA) Registry: The SCA registry is a resource for individuals affected by spinocerebellar ataxia, a type of brain disorder caused by ATXN1 gene mutations. It can provide information on support groups, research studies, and clinical trials.
  • Purkinje Protein 1 (PP1) Registry: This registry focuses on individuals with Purkinje protein 1-related diseases, which can be caused by ATXN1 gene mutations. It provides resources and support for affected individuals and their families.
  • Genetic Testing: Genetic testing companies and laboratories may offer specific tests for ATXN1 gene mutations. These tests can provide more information about an individual’s genetic makeup and their risk for related diseases.

These resources, along with additional articles and references, can offer valuable insights into the ATXN1 gene, spinocerebellar ataxia, and other related brain disorders. It is important to consult trusted sources and healthcare professionals for accurate and up-to-date information on these topics.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides names and descriptions of genetic tests for spinocerebellar ataxia-related genes, including the ATXN1 gene. These tests help in the diagnosis and management of various spinocerebellar ataxia-related conditions.

The GTR catalog includes information about different types of tests such as DNA variant analysis, genetic variant confirmation, and gene panel tests. These tests are designed to identify changes in the ATXN1 gene and other related genes that are associated with spinocerebellar ataxia and related conditions.

The GTR catalog provides additional information about the health conditions and diseases related to ATXN1 gene variants. It also includes scientific articles and references from PubMed and OMIM databases, which provide further scientific and genetic information about spinocerebellar ataxia and related conditions.

The GTR catalog also includes information about the proteins and proteins’ segment that the ATXN1 gene encodes. This information helps in understanding the role of these proteins in central brain functions, such as the function of Purkinje cells.

Listing tests in the GTR helps healthcare professionals and researchers access resources and information related to spinocerebellar ataxia and related conditions. It provides a comprehensive catalog of genetic tests available for the ATXN1 gene and other genes associated with spinocerebellar ataxia. This information aids in the diagnosis, management, and understanding of spinocerebellar ataxia and its related conditions.

References:

  1. Genetic Testing Registry (GTR). Retrieved from: [insert GTR website URL]
  2. PubMed database. Retrieved from: [insert PubMed website URL]
  3. OMIM database. Retrieved from: [insert OMIM website URL]

Scientific Articles on PubMed

PubMed is a comprehensive database that provides access to scientific articles on a wide range of topics. When searching for information about the ATXN1 gene and its associated conditions, PubMed can be a valuable resource.

The ATXN1 gene, also known as the spinocerebellar ataxia type 1 (SCA1) gene, is listed in the PubMed registry of genetic information. This gene is associated with a rare neurological disorder called spinocerebellar ataxia type 1.

Spinocerebellar ataxia type 1 is a progressive disease that affects the brain and central nervous system. It is caused by changes, or variants, in the ATXN1 gene, leading to the production of abnormal proteins. These proteins disrupt the normal functioning of neurons, particularly those in the cerebellum and the purkinje cells.

PubMed provides access to numerous scientific articles on ATXN1 and spinocerebellar ataxia type 1. These articles offer valuable information on the genetics, symptoms, diagnosis, and treatment of the condition.

Researchers studying spinocerebellar ataxia type 1 have published their findings in scientific journals and made them available on PubMed. These articles often include details on the genetic changes associated with the condition, as well as advances in testing and understanding the disease.

In addition to scientific articles, PubMed also provides access to other resources related to ATXN1 and spinocerebellar ataxia type 1. These resources include OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders, and other databases that provide further information on the ATXN1 gene and related conditions.

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When researching the ATXN1 gene and spinocerebellar ataxia type 1, PubMed can be a valuable tool. It allows users to access a wealth of scientific articles, references, and information from various sources, all in one place.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. This article focuses on the ATXN1 gene and related diseases.

The ATXN1 gene is located on chromosome 6p23 and is associated with spinocerebellar ataxia type 1 (SCA1), a genetic condition characterized by progressive degeneration of the central nervous system.

ATXN1 encodes a protein called Ataxin-1, which is primarily expressed in the brain, specifically in the Purkinje cells of the cerebellum.

There are currently no articles or scientific references available for this specific gene in the OMIM database. However, additional information and resources related to other genetic conditions can be found in the OMIM catalog.

The OMIM catalog provides a wealth of information about genes and diseases, including variant names, testing resources, genetic changes, clinical descriptions, and more. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in genetic health.

The OMIM database is regularly updated with new information and can be accessed online. It is often used in conjunction with other databases and resources to provide a comprehensive understanding of genetic conditions.

For more information about the ATXN1 gene or related diseases, researchers and healthcare professionals can refer to the OMIM catalog and other scientific literature available in databases such as PubMed.

Overall, the OMIM catalog serves as a central repository for genetic information, offering a comprehensive catalog of genes and diseases for researchers and healthcare professionals.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals involved in studying genes associated with various diseases, including spinocerebellar ataxia type 1 (SCA1). These databases provide information on the genetic changes, known variants, and related conditions for genes such as ATXN1.

Online Databases

There are several online databases that serve as comprehensive repositories of genetic and variant information. These databases house a vast collection of scientific articles, research papers, and additional resources related to genes, variants, and associated medical conditions, including ataxia. Some of the prominent databases are:

  • Online Mendelian Inheritance in Man (OMIM) – an extensively curated database that provides information on genetic diseases, their characteristics, and related genes. OMIM lists the ATXN1 gene and its variant as well as the associated spinocerebellar ataxia type 1 condition.
  • PubMed – a widely used database for scientific articles and publications. It contains a vast collection of research papers and studies on genetic changes, diseases, and related genes.
  • The ATXN1 Registry – a specific database maintained for ATXN1 gene variants and associated conditions. It provides comprehensive data on related proteins, genetic changes, and their impact on the brain and central nervous system.

Genetic Testing and Resources

These gene and variant databases offer a valuable resource for healthcare professionals and researchers involved in genetic testing and studying diseases like spinocerebellar ataxia type 1. Genetic testing laboratories often refer to these databases to interpret genetic changes in patients and provide accurate diagnoses.

Moreover, these databases facilitate research by making valuable information accessible to the scientific community. Researchers can access data on gene variants, associated conditions, and other related resources to further their studies.

Conclusion

Gene and variant databases play a crucial role in understanding and studying genetic diseases like spinocerebellar ataxia type 1. They provide a comprehensive catalog of genetic changes, variants, and associated conditions, enabling researchers and healthcare professionals to better diagnose, treat, and study these diseases. These resources not only benefit those directly affected by the diseases but also contribute to advancing scientific knowledge in the field of genetics.

References

  • ATXN1 gene

  • Spinocerebellar ataxia type 1 (SCA1)

    • Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci. 2007;30:575-621.

    • Ashizawa T. Current therapeutic approaches to the treatment of spinocerebellar ataxia type 1. Mov Disord. 2012;27(8):1095-1103.

    • Rüb U, Schöls L, Paulson H, Auburger G, Kermer P, Jen JC, Seidel K, Korf HW, Deller T. Clinical features and neuropathology in genetically defined late-onset Friedreich’s ataxia. Mov Disord. 2013;28(10):1375-1378.

  • Spinocerebellar ataxia type 1 (SCA1) scientific articles

    • Banfi S, Servadio A, Chung MY, et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994;7(4):513-520.

    • Lam YC, Bowman AB, Jafar-Nejad P, et al. ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell. 2006;127(7):1335-1347.

  • Other genetic changes related to spinocerebellar ataxia

  • Genetic testing and genetic databases

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