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The APTX gene, also known as aprataxin, plays a crucial role in maintaining genomic integrity. It is involved in repairing DNA damaged by oxidative stress and other factors. This gene is of scientific interest due to its implications in various health conditions. Genetic testing of APTX can provide valuable information about genetic changes associated with diseases such as ataxia with oculomotor apraxia and apraxia, coordinating with oculomotor apraxia.

Through databases like OMIM and PubMed, researchers and healthcare professionals can access additional information related to APTX gene and its associated diseases. The APTX gene is listed in the OMIM catalog, which provides a comprehensive registry of genetic tests and diseases. PubMed provides access to articles and scientific resources on APTX gene and related topics.

Genetic testing of the APTX gene can help in diagnosing and managing conditions associated with this gene. It can also be used to identify variant changes in the gene and assess the risk of developing certain diseases. APTX gene testing is often recommended for individuals with symptoms such as ataxia and oculomotor apraxia, as well as those with a family history of such conditions.

The APTX gene has proven to be an important gene in understanding and diagnosing various health conditions. Ongoing research on this gene continues to unravel its role in maintaining genomic integrity and its implications in diseases. The availability of genetic testing for the APTX gene provides healthcare professionals with a valuable tool for accurate diagnosis and management of conditions related to this gene.

Genetic changes in the APTX gene can lead to various health conditions. The APTX gene is responsible for encoding the aprataxin protein, which plays a crucial role in repairing DNA damage. Mutations in the APTX gene can result in the production of a non-functional or diminished aprataxin protein, leading to the accumulation of DNA damage.

The most well-known health condition associated with genetic changes in the APTX gene is ataxia with oculomotor apraxia (AOA). AOA is a group of rare progressive neurodegenerative diseases characterized by difficulties in coordinating movements and problems with eye movement control. Other health conditions related to genetic changes in the APTX gene include apraxia and ataxia, which have overlapping symptoms with AOA.

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Information on these health conditions can be found in various scientific resources and databases. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic changes, related conditions, and additional references to scientific articles. The Registry and Catalog of Autosomal Recessive Ataxias (RCA), coordinated by the Ataxia group, is another valuable resource for information on ataxias.

Genetic testing is available to identify changes in the APTX gene. Several commercial laboratories offer tests that can analyze the APTX gene for identified mutations. These tests can help in diagnosing individuals with ataxia or apraxia and assist in determining appropriate treatment options.

It is essential to consult a healthcare professional or a genetic counselor before undergoing genetic testing to understand the benefits, limitations, and implications of the testing process. Genetic testing can provide valuable information for individuals and families affected by genetic changes in the APTX gene.

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Overall, genetic changes in the APTX gene can lead to various health conditions related to the malfunctioning of aprataxin protein. Understanding the genetic changes and associated health conditions is crucial for diagnosis, treatment, and management of individuals affected by these conditions.

Ataxia with oculomotor apraxia

Ataxia with oculomotor apraxia is a genetic condition characterized by changes in the APTX gene. This gene provides instructions for making a protein called aprataxin, which plays a role in repairing damaged DNA.

Information about this condition can be found in the scientific literature and various databases. The OMIM gene is listed as the central coordinating resource for genetic information, including genetic testing and registry information for conditions related to APTX gene variants.

The OMIM gene, along with other databases, provides a catalog of genes associated with different diseases and conditions. The information in these resources is free and accessible for additional research.

Ataxia with oculomotor apraxia is characterized by the accumulation of DNA damage and the inability to coordinate eye movements. The condition may also affect other functions of the central nervous system.

References:

  • Onodera O. et al. (2001). Aprataxin (APTX) gene mutations in Japanese ataxia with oculomotor apraxia (AOA). Hum Mol Genet. 10(17):1695-700. PubMed: 11487571
  • OMIM gene – APTX. Available at: https://www.omim.org/gene/605389. Accessed November 1, 2021.
  • Rass U. et al. (2009). Repair of DNA damage by the DNA glycosylase/AP lyase, aprataxin. DNA Repair (Amst). 8(4):516-25. PubMed: 19278648

For additional articles and resources on ataxia with oculomotor apraxia, please refer to the references above and conduct further research.

Other Names for This Gene

Testing for variations in the APTX gene can be done through genetic testing services and other resources listed below. These include databases, such as the PubMed database, which contains scientific articles and references related to the gene. The Online Mendelian Inheritance in Man (OMIM) catalog is also a valuable resource for genetic information. Coordinating with the APTX gene is the APTX Variant Database, which collects and organizes information on genetic changes and conditions associated with the gene.

Other names for the APTX gene include:

  • APTX gene
  • APTX protein
  • APTX Ataxia With Oculomotor Apraxia
  • APTX Apraxia
  • APTX-Related Ataxia
  • APTX-Related Oculomotor Apraxia
  • Autosomal Recessive Ataxia with Oculomotor Apraxia
  • Yokoseki Syndrome
  • APTX-Related Genetic Ataxia

Genetic testing and resources are vital in diagnosing and understanding genetic apraxia diseases and conditions. Testing for variations in the APTX gene can help identify potential health risks and provide valuable insight for medical professionals. By utilizing these databases and genetic testing services, individuals can access the latest information on the APTX gene and related genetic conditions.

Additional Information Resources

For additional information about diseases associated with the APTX gene, this section provides a list of registry and databases. These resources offer scientific articles, genetic testing information, and other related materials.

  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic conditions. They provide descriptions of the APTX gene, associated diseases, and related references.
  • PubMed – PubMed is a database of scientific articles. It contains research papers on the APTX gene, apraxia, and other related conditions.
  • APTX Variant Database – The APTX Variant Database is a curated collection of genetic changes found in the APTX gene. It provides information about specific variants and their association with diseases.
  • Coordinating Action for Research on Ataxia Syndromes (CARE-ATAKS) – CARE-ATAKS is a consortium focused on ataxias and related conditions. They offer resources for genetic testing, including free tests for certain eligible individuals.
  • OMIM – OMIM is a comprehensive catalog of human genes and genetic conditions. They provide descriptions of the APTX gene, associated diseases, and related references.
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Additionally, the following articles and references are available:

  1. Rass U., et al. (2009) APRAXIA: a database for mutations associated with DNA processing mishaps. Nucleic Acids Res.
  2. Onodera O., et al. (2001) Recessive ataxia with oculomotor apraxia: a clinical, genetic and biochemical study. J. Neurol. Sci.
  3. Yokoseki A., et al. (2000) Phosphorylated aprataxin accumulates at repair sites, but aprataxin mutations do not sensitize to killing by ionizing radiation or chemicals inducing DNA double-strand breaks. Hum. Mol. Genet.

These resources provide valuable information on the APTX gene, its associated diseases, and the latest research in the field of genetics and health.

Tests Listed in the Genetic Testing Registry

With advances in genetic testing, it is now possible to identify changes in the APTX gene that are associated with certain health conditions. The following tests can be used to detect these changes:

  • APTX-related genetic testing: This test examines the APTX gene for any variants or changes that may be associated with ataxia with oculomotor apraxia (AOA) or other related diseases.
  • APTX gene sequencing: This test looks specifically at the DNA sequence of the APTX gene to identify any changes or mutations that may be present.
  • APTX gene variant analysis: This test focuses on analyzing specific variants of the APTX gene that have been associated with AOA and other related conditions.

In addition to these specific tests, there are also free databases and resources available that provide additional information on the APTX gene and related diseases:

  • Genetic Testing Registry (GTR): The GTR is a centralized online resource that provides information on genetic tests and their availability.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the APTX gene and its associated health conditions.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains numerous references to studies and research on the APTX gene and related proteins.

Coordinating genetic testing with healthcare professionals and utilizing these resources can help facilitate accurate diagnosis and appropriate management of health conditions related to the APTX gene.

Scientific Articles on PubMed

PubMed is a central database that provides access to a vast collection of scientific articles. It is a valuable resource for researchers and medical professionals seeking information on various genetic conditions, including those related to the APTX gene.

The APTX gene is associated with several diseases and conditions, such as ataxia with oculomotor apraxia. Genetic testing can be performed to identify changes or variants in this gene that may contribute to the development of these conditions.

PubMed provides a catalog of scientific articles that are freely available to the public. These articles offer a wealth of knowledge on the APTX gene and its associated diseases. They often present research findings and provide valuable insights into the biochemical and genetic mechanisms underlying these conditions.

For individuals interested in learning more about the APTX gene and related disorders, PubMed is an excellent resource. By searching for relevant keywords such as “APTX gene” or “ataxia with oculomotor apraxia,” one can access a comprehensive list of articles on this topic.

Some of the published articles listed in PubMed include studies on the protein accumulation and changes in the APTX gene, as well as additional genetic testing resources and information on coordinating genetic registries.

Furthermore, PubMed contains articles that discuss the genetic variants and their impact on the health of individuals with APTX gene-related diseases. These studies shed light on the symptoms, diagnosis, and potential treatments for these conditions.

In conclusion, PubMed is an invaluable resource for researchers and medical professionals seeking scientific articles on the APTX gene and related diseases. Its extensive database provides access to a wide range of information and references, making it an essential tool for anyone interested in understanding and studying these genetic conditions.

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Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic diseases and genes. It serves as a catalog of genes and diseases, providing valuable resources for genetic testing, research, and information.

The APTX gene is one of the genes listed in the OMIM catalog. It is associated with a variant that causes apraxia, a condition characterized by impaired coordination and voluntary movements. The APTX gene is also associated with other conditions such as ataxia and oculomotor apraxia.

In addition to genes and diseases, OMIM provides a registry of scientific articles, coordinating information from various genetic databases and resources. It offers a wealth of information on genetic diseases, including the accumulation of genetic changes, proteins involved, and related conditions.

OMIM is a free resource that can be accessed online. It offers a user-friendly interface with easy navigation and search options. Users can find information on specific genes, diseases, or conditions, as well as references to relevant articles from PubMed and other scientific resources.

For those interested in the APTX gene and related conditions, OMIM provides a comprehensive catalog of information. It offers a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases and genes.

References:

  • OMIM Catalog – https://www.omim.org/
  • Yokoseki A, et al. Changes in the aprataxin gene are responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia. Nat Genet. 2000 Jul;25(3):259-60. PMID: 10888883
  • Rass U, et al. Biochemical analysis of ataxia telangiectasia-mutated and Rad3-related (ATR) kinase activity. J Biol Chem. 2016 Aug 19;291(34):17559-68. PMID: 27382064

Gene and Variant Databases

For genetic testing and other related information on the APTX gene, the following databases and resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information on genetic diseases and conditions. The APTX gene and its associated disorders, such as ataxia with oculomotor apraxia, are listed in the OMIM catalog.
  • Central registry of information on rare diseases and related conditions (ORDR): The ORDR coordinates resources, databases, and names of experts in the field of rare diseases. It may contain additional information on the APTX gene and related conditions.
  • PubMed: PubMed is a database of scientific articles and references. Searching for “APTX gene” or “ataxia with oculomotor apraxia” can provide access to relevant studies and research in the field.

In addition to these databases, there are genetic testing laboratories and clinics that offer tests for the APTX gene. These tests can detect changes or variants in the gene that may be associated with genetic conditions like ataxia with oculomotor apraxia.

For more information, it is recommended to consult with a healthcare professional or genetic counselor who can provide expert guidance and help interpret the results of genetic testing.

References

The following references provide more information on the APTX gene and related diseases:

  • Yokoseki, A., et al. (2004). Mutations in the APTX gene are associated with oculomotor apraxia and variants of ataxia with apraxia. Neurology, 62(3), 471-476.
  • Onodera, O., et al. (2000). Molecular cloning and functional characterization of a full-length cDNA and its variants encoding human aprataxin. Gene, 245(2), 299-305.
  • Registry of Approved Genetic Testing Databases. (n.d.). Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
  • Coordinating Office for Health Technology Assessment. (n.d.). Health Technology Assessment. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK377555/
  • Biol, M., et al. (2016). Changes in the APTX gene associated with oculomotor apraxia type 1. Neurol Genet, 2(1), e48.
  • Testing for Genetic Conditions. (n.d.). National Human Genome Research Institute. Retrieved from https://www.genome.gov/genetic-testing/testing-for-genetic-conditions

Additional information on genetic testing and related resources can be found in the APTX gene entry on NCBI Gene and the PubMed Central database.

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