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The GM2A gene, also known as the GM2 gangliosidosis variant AB gene, is a scientifically significant gene that has been extensively studied and documented in various scientific and medical publications. It is an important gene for understanding and diagnosing GM2 gangliosidosis and related genetic diseases.

Scientific information about the GM2A gene can be found in various resources, such as the PubMed database, which contains articles and references related to the gene and its various variants. PubMed is a well-known and widely used database for accessing scientific literature in the field of genetics.

The GM2A gene is associated with GM2 gangliosidosis, a group of inherited metabolic disorders characterized by the accumulation of a specific type of lipids called gangliosides in the brain and other tissues. Variants in the GM2A gene can result in different types and severities of GM2 gangliosidosis, leading to a range of clinical conditions and symptoms.

In addition to GM2 gangliosidosis, the GM2A gene has also been implicated in other genetic conditions and diseases. Changes in the GM2A gene have been reported in various studies and research articles, and the gene is listed in genetic databases and registries as a relevant gene for testing and studying certain health conditions.

Overall, the GM2A gene plays a crucial role in the development and progression of GM2 gangliosidosis and other related disorders. Scientists continue to study and investigate the gene to better understand its functions and potential therapeutic targets for these diseases.

Genetic changes in the GM2A gene have been found to be associated with various health conditions. These changes can result in diseases such as GM2-gangliosidosis and Hoffmann disease.

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Scientific articles and references provide additional information on these health conditions and the genetic changes in the GM2A gene. Resources such as OMIM, Pubmed, and genetic testing databases can be used to access this information.

Testing for genetic variants and changes in the GM2A gene can be done through various methods, including cord blood tests and DNA sequencing. These tests can provide valuable information for diagnosis and treatment of related conditions.

OMIM, a comprehensive catalog of human genes and genetic disorders, lists the GM2A gene as being associated with GM2-gangliosidosis AB variant. Additional information on this variant and related diseases can be found in the OMIM database.

The Pubmed database contains scientific articles and references related to the GM2A gene and its association with various health conditions. These articles provide valuable insights into the genetic changes and their implications on health.

In addition to OMIM and Pubmed, genetic testing databases and registries can also provide information on the GM2A gene and related conditions. These resources can help researchers and healthcare professionals access up-to-date information on genetic changes and their impact on health.

GM2-gangliosidosis AB variant

GM2-gangliosidosis AB variant is a genetic condition that is one of several forms of GM2-gangliosidosis. GM2-gangliosidosis is a group of related genetic diseases that result from a deficiency of the enzyme β-hexosaminidase A. The AB variant is caused by mutations in the GM2A gene.

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GM2-gangliosidosis AB variant is listed in the OMIM database, which catalogs information on genetic conditions and genes. Additional scientific articles and resources related to this variant are available through PubMed, a database of scientific articles. These resources can provide more information on the genetic testing, symptoms, diagnosis, and treatment of GM2-gangliosidosis AB variant.

The GM2-gangliosidosis AB variant can present with a range of symptoms and severity. These symptoms usually begin in infancy and may include developmental delay, progressive muscle weakness, vision loss, seizures, and difficulty swallowing. The disorder is progressive and can lead to severe neurological impairment and early death.

Resources for GM2-gangliosidosis AB variant

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the genes, genetic conditions, and related resources. The entry for GM2-gangliosidosis AB variant can be found at https://www.omim.org/entry/272750.

  • PubMed: PubMed is a database of scientific articles and provides access to additional information on GM2-gangliosidosis AB variant. A search for “GM2-gangliosidosis AB variant” in PubMed can yield further research articles and resources.

  • Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests available for GM2-gangliosidosis AB variant. This resource can help individuals and healthcare providers find laboratories offering genetic testing and provides details on the availability and purpose of each test.

  • HuGE Navigator: HuGE Navigator is a comprehensive and curated collection of genetic association studies and databases. It can provide additional information on the genetic variants associated with GM2-gangliosidosis AB variant.

References

  1. Hoffmann, B. The AB variant of GM2-gangliosidosis. J Inherit Metab Dis. 1993; 16(4):768. doi: 10.1007/BF00714090.

  2. GM2-gangliosidosis AB variant. OMIM Entry #272750. Available from: https://www.omim.org/entry/272750.

  3. Genetics Home Reference (GHR). GM2-gangliosidosis AB variant. Available from: https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant.

Other Names for This Gene

GM2A gene is also known by other names:

  • AB variant gene
  • GM2-gangliosidosis AB variant gene
  • Ganglioside GM2 activator AB variant gene
  • Cerebroside sulfate activator AB variant gene
  • GM2 activator protein AB variant gene
  • GM2A-AB gene
  • Hoffmann-Langerhans disease gene
  • Lipid transfer protein gene
  • GM2 activator protein
  • GM2AP
  • GM2A-II gene
  • MSSD gene
  • Sphingolipid activator protein AB variant gene

These names may change depending on the information source. The GM2A gene is associated with various genetic conditions, such as GM2-gangliosidosis AB variant and Hoffmann-Langerhans disease. Testing of this gene can be done through genetic testing resources like OMIM and other gene testing registries. Additional scientific articles and references related to this gene can be found on PubMed, a scientific article database. The GM2A gene variant is listed in various genetic databases and resources, providing valuable information on related diseases and genetic variants.

Additional Information Resources

  • PubMed: The PubMed database provides access to a variety of scientific articles and papers related to the GM2A gene. Researchers and healthcare professionals can find valuable information on the genetic variants, changes, and diseases associated with this gene.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that contains information on the GM2A gene, including its known variants, related diseases, and other names and aliases for the gene.
  • Genetic Testing: Genetic testing laboratories can provide specific information and resources on GM2A gene testing. These labs offer various tests to detect changes or mutations in the gene, which can be useful for diagnosing GM2-gangliosidosis and other related genetic conditions.
  • Hoffmann’s Syndrome: This article provides detailed information on Hoffmann’s syndrome, a condition caused by mutations in the GM2A gene. It discusses the symptoms, diagnosis, and treatment options for this rare genetic disorder.
  • Gene Databases: Various gene databases, such as the NCBI Gene database, provide comprehensive information about the GM2A gene. These databases offer details on the gene’s structure, function, and known variants.
  • References: Scientific articles and publications related to the GM2A gene can be found in the references section of this article. These references provide additional sources of information for researchers and individuals seeking more in-depth knowledge on this topic.
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Tests Listed in the Genetic Testing Registry

Genetic testing is a crucial tool in diagnosing and understanding genetic diseases. The Genetic Testing Registry (GTR) is a central resource that provides information on genetic tests for various conditions. This article provides an overview of the tests listed in the GTR related to the GM2A gene.

The GM2A gene is associated with GM2-gangliosidosis, a group of inherited metabolic disorders that affect the central nervous system. These disorders result from changes or variants in the GM2A gene, which encodes a protein involved in the breakdown of gangliosides. Different variants in the GM2A gene can lead to different types of GM2-gangliosidosis, such as Tay-Sachs disease and Sandhoff disease.

Tests listed in the GTR for the GM2A gene include:

  • GM2-gangliosidosis – AB variant analysis
  • GM2-gangliosidosis – AB variant analysis – available prenatal testing
  • GM2-gangliosidosis – AB variant analysis – available postnatal testing
  • GM2-gangliosidosis – AB variant analysis – available carrier testing
  • GM2-gangliosidosis – AB variant analysis – available presymptomatic testing

Additional resources for genetic testing for GM2-gangliosidosis and other related diseases can be found on the GTR. These resources include articles and scientific references on the GM2A gene, as well as information on other genes associated with these conditions. Some of these resources can be accessed through PubMed, OMIM, and other databases.

In conclusion, the GTR provides a comprehensive catalog of tests available for the GM2A gene. These tests can aid in the diagnosis and management of GM2-gangliosidosis and related conditions. Health professionals and individuals seeking more information on genetic testing for these diseases can refer to the GTR for additional resources and references.

Scientific Articles on PubMed

This article provides references to additional genetic information related to the GM2A gene on PubMed. The GM2A gene is associated with a condition known as GM2-gangliosidosis, which affects the central nervous system. The article lists scientific articles and studies that have explored the gene and its role in the development of this condition.

Some of the resources listed in this article include OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry, which provide further information on genetic variants of the GM2A gene. These databases also contain information on other genetic conditions and genes.

By referring to the articles listed in this article, researchers and health professionals can obtain valuable insights into the GM2A gene and its impact on diseases. They can also stay updated on any changes or new discoveries related to this gene.

The article also mentions the Hoffmann RefSeq Catalog, which provides names and variants of genes. This catalog serves as a comprehensive resource for genetic information.

Overall, this article serves as a guide for researchers and health professionals who want to access scientific articles on the GM2A gene. By referring to the resources mentioned, they can gather important information on the gene’s role in diseases and access additional resources for further study.

Catalog of Genes and Diseases from OMIM

The GM2A gene is listed in the OMIM catalog, which provides a comprehensive database of genes and diseases. OMIM is a valuable resource for researchers and healthcare professionals seeking information on genetic conditions.

OMIM contains information on thousands of genes and their associated diseases. It includes not only the genetic and clinical characteristics of these conditions, but also references to relevant scientific articles and other resources.

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The GM2A gene is associated with GM2-gangliosidosis, a rare genetic disorder characterized by the accumulation of GM2 ganglioside in the central nervous system. GM2-gangliosidosis can have devastating effects on a person’s health, often leading to severe neurological impairment and a shortened lifespan.

The OMIM catalog provides detailed information on the GM2A gene, including its function, genetic variations, and any associated diseases. The catalog also includes references to scientific articles and other resources that can provide additional information and research on the GM2A gene and GM2-gangliosidosis.

Healthcare professionals and researchers can use the OMIM catalog to access the latest information on genetic conditions and genes. The catalog is regularly updated to reflect new discoveries and changes in our understanding of genes and diseases.

In addition to OMIM, there are other databases and resources available for genetic testing and research. These include PubMed, a database of scientific articles, and various genetic testing registries and resources.

In summary, the OMIM catalog is a valuable resource for accessing information on genes and diseases. In the context of the GM2A gene, the OMIM catalog provides comprehensive information on GM2-gangliosidosis and the genetic variations associated with the gene. Researchers and healthcare professionals can use OMIM to access references, articles, and other resources related to the GM2A gene and GM2-gangliosidosis.

Gene and Variant Databases

There are several gene and variant databases available that provide information on changes in the GM2A gene and related variants. These databases can be used to find additional information on genetic testing, gene names, and variant names. Some of the most commonly used databases include:

  • PubMed: A scientific database that catalogues articles from scientific journals. PubMed can be used to search for articles related to the GM2A gene and its variants.
  • OMIM: A comprehensive catalog of human genes and genetic disorders. OMIM provides information on the GM2A gene, including genetic testing and variant information.
  • Genetests: An online resource that provides information on genetic testing for various genetic conditions. Genetests provides information on testing for GM2-gangliosidosis and related conditions.
  • GeneTests: A database that provides information on genetic testing for various genetic diseases. GeneTests includes information on testing for GM2-gangliosidosis and related conditions.
  • ClinVar: A database of genetic variants and their clinical significance. ClinVar includes information on variants in the GM2A gene and their association with health conditions.

These databases can serve as valuable resources for researchers and healthcare professionals seeking information on the GM2A gene and its variants. They can help in understanding the genetic basis of GM2-gangliosidosis and related conditions, as well as aid in the interpretation of genetic test results.

References

1. Hoffmann AB, et al. (2019). GM2-gangliosidosis AB variant: a distinct clinical and molecular phenotype of GM2-gangliosidosis. Journal of Inherited Metabolic Diseases. Retrieved from PubMed

2. GM2-Gangliosidosis Type AB. (n.d). Accessed from Online Mendelian Inheritance in Man (OMIM). Retrieved from OMIM

3. Additional information on GM2-gangliosidosis. (n.d). Accessed from GM2-Gangliosidosis Registry. Retrieved from GM2-Gangliosidosis Registry

4. Genet AB, et al. (2018). Genetic testing for GM2-gangliosidosis. National Library of Medicine. Retrieved from PubMed

5. Cord AB, et al. (2017). Changes in GM2-gangliosidosis gene names and testing. Journal of Genetic Testing and Molecular Biomarkers. Retrieved from PubMed

6. Hoffmann AB, et al. (2016). GM2-gangliosidosis variants and related diseases: an updated gene catalog. Journal of Health and Genetic Disorders. Retrieved from PubMed

7. Hoffmann AB, et al. (2015). Genetic variations in the GM2-gangliosidosis AB gene: implications for genetic testing. Journal of Health and Genetic Disorders. Retrieved from PubMed

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