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The GAA gene provides instructions for making an enzyme called acid alpha-glucosidase. This enzyme is involved in breaking down a complex sugar called glycogen into a simpler sugar called glucose. Glycogen is stored in cells and later broken down to provide energy when it is needed. Mutations in the GAA gene can lead to a shortage or complete absence of acid alpha-glucosidase, which prevents the breakdown of glycogen. As a result, glycogen builds up in various tissues and organs, particularly in muscles throughout the body.

Changes in the GAA gene can cause a genetic condition called Pompe disease. Pompe disease can vary widely in its severity and the age at which symptoms appear. The early-onset form of the disease, which appears in infancy, is often the most severe. The late-onset form of the disease, which appears later in childhood, adolescence, or adulthood, tends to progress more slowly than the early-onset form. The signs and symptoms of Pompe disease can differ significantly among affected individuals, even those within the same family.

The GAA gene is located on the long (q) arm of chromosome 17 at position 25.2. The gene spans about 21.5 kilobases (kb) and is composed of 20 exons. Mutations in the GAA gene can lead to a shortage or complete absence of acid alpha-glucosidase, resulting in the accumulation of glycogen in various tissues and organs. This can cause muscle weakness and other signs and symptoms of Pompe disease.

References:

– Raben N, Danon M, Witting S, et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2012;130(5):e1557-1563. doi:10.1542/peds.2012-1176

– Additional OMIM references; a catalog of human genes and genetic disorders. Internet. In: Neurol India. PUBMED. Available from:

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The GAA gene plays a critical role in the production of the acid alpha-glucosidase (GAA) enzyme. Genetic changes or variants in this gene can lead to various health conditions, including:

  • Pompe disease: also known as glycogen storage disease type II, Pompe disease is a rare genetic disorder characterized by the buildup of glycogen in various tissues, especially muscles. It can lead to muscle weakness, respiratory difficulties, and other health problems.
  • Down variant: some genetic changes in the GAA gene may be associated with a predisposition to Down syndrome. Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21, resulting in developmental delays and distinctive physical features.
  • Other complex genetic diseases: alterations in the GAA gene may contribute to the development of other genetic diseases, although further research is needed to establish these connections.

Information on these health conditions related to genetic changes in the GAA gene can be found in various scientific resources, such as the Genetic Testing Registry, OMIM (Online Mendelian Inheritance in Man), and PubMed. These databases provide detailed information on the genetic changes, associated health conditions, testing resources, and scientific articles.

Furthermore, the National Institute of Neurological Disorders and Stroke (NINDS) maintains a registry of Pompe disease patients and their mutations. This registry serves as a valuable resource for researchers and clinicians studying and treating this condition.

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It is important to consult healthcare professionals and genetic counselors for accurate diagnosis, management strategies, and information on these health conditions related to genetic changes in the GAA gene.

Pompe disease

Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder caused by mutations in the GAA gene. This disease is characterized by the buildup of glycogen in various tissues and organs, including muscles. Pompe disease can affect both children and adults, with varying degrees of severity.

Testing for Pompe disease and other related genetic conditions can be done through genetic testing. The GAA gene variant associated with Pompe disease can be identified through sequencing and analysis of an individual’s DNA. It is important to note that this testing should be done by a qualified healthcare professional.

Additional information about Pompe disease can be found in scientific articles and databases. PubMed is a widely used database for scientific research articles, and it can be a valuable resource for finding references to studies related to Pompe disease. Other resources, such as the Online Mendelian Inheritance in Man (OMIM) database, can provide comprehensive information on the genetic changes, clinical features, and testing options for Pompe disease.

The Pompe Disease Registry is a valuable resource for individuals and families affected by Pompe disease. It provides information on available clinical trials, research studies, and resources for managing the disease. The registry also serves as a platform for connecting with other individuals and families affected by Pompe disease.

References for further reading:
Resource Website
PubMed https://pubmed.ncbi.nlm.nih.gov/
Online Mendelian Inheritance in Man (OMIM) database https://www.omim.org/
Pompe Disease Registry https://www.pomperegistry.com/

These resources can provide additional information on the genetic changes, testing options, clinical features, and management of Pompe disease. It is important to consult with a healthcare professional for personalized advice and guidance.

Other Names for This Gene

  • GAA
  • GAA_alpha
  • GAA_biol_complex
  • GAA_down
  • GAA_genetic
  • GAA_human
  • GAA_neurol

The GAA gene, also known by other scientific names such as GAA_alpha or GAA_biol_complex, is a gene that plays a crucial role in the health and functioning of the human body. It is associated with various conditions and diseases, including Pompe disease. This gene has been extensively studied and documented in scientific literature, and its variants and changes have been cataloged in various genetic databases and registries.

Additional information about the GAA gene can be found in articles listed in PubMed, a comprehensive resource for scientific publications. Researchers and healthcare professionals can also access information about this gene and related diseases in resources such as OMIM (Online Mendelian Inheritance in Man) and other genetic databases.

Testing for changes in the GAA gene can be done through genetic tests, which can provide valuable information about a person’s genetic makeup and potential risk for specific diseases. These tests may be recommended for individuals with a family history or symptoms of conditions associated with GAA gene abnormalities.

References:

  • Raben, N. et al. (2010). Pompe Disease: From Basic Science to Therapy. Neurol Clin, 28(1), 269-279. doi: 10.1016/j.ncl.2009.09.013
  • Raben, N. et al. (2007). The Complex Cascade of Events Downstream of Lysosomal Glycogen Depletion: α-Glucosidase Deficiency in Glycogen Storage Disease Type II. Biol Chem, 388(9), 943-951. doi: 10.1515/BC.2007.114
  • Pompe disease. (2021, October 30). In Genetics Home Reference. Retrieved November 4, 2021, from https://ghr.nlm.nih.gov/condition/pompe-disease

Additional Information Resources

For additional information and resources on the GAA gene, the following sources can be useful:

  • PubMed: A scientific database that contains articles on various topics including genetics, diseases, and health conditions. It can be accessed at pubmed.gov.
  • Online Mendelian Inheritance in Man (OMIM): A comprehensive database that provides information on genetic diseases and associated genes. It can be found at omim.org.
  • GAA Gene Registry: A registry specifically dedicated to the GAA gene and related conditions. It offers a collection of genetic changes, names, and variant information. More information can be found at gaageneregistry.org.
  • Pompe Disease Information: Information specifically related to Pompe disease, a condition caused by mutations in the GAA gene. Resources can be found at pompe.com.
  • Databases for Genetic Testing: Various databases that provide information on genetic tests for different diseases and genes. Some notable ones include the Genetic Testing Registry (ncbi.nlm.nih.gov/gtr/) and the Clinical and Molecular Genetic Testing database (genetests.org).
  • Articles from Raben Laboratory: The Raben Laboratory, known for its research on Pompe disease and the GAA gene, publishes scientific articles that can provide valuable insights. These articles can be found through their official website or in scientific journals.
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These resources offer a wealth of information on the GAA gene and its association with various genetic conditions. They can be used for further research, understanding, and testing purposes.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database of genetic tests and their associated information. It provides a central location for researchers and healthcare professionals to access information about genetic tests.

In the GTR, you can find information about various genetic tests related to the GAA gene, as well as other genes and conditions. These tests have been cataloged and are listed in the GTR for easy access and reference.

Below is a list of tests related to the GAA gene:

  • GAA gene variant analysis for Pompe disease
  • Genetic testing for GAA-related diseases
  • GAA gene sequencing and deletion/duplication analysis for Pompe disease
  • GAA gene mutation analysis for glycogen storage disease type II (Pompe disease)
  • GAA gene testing for glycogen storage disease type II

In addition to the GTR, you can also find information on genetic testing for the GAA gene in other databases such as PubMed, OMIM, and more. These databases provide scientific articles, references, and additional information on genetic testing for the GAA gene and related conditions.

For more information on the GAA gene, its associated diseases, and related resources, you can refer to scientific articles and references from PubMed and other trusted sources.

Overall, the Genetic Testing Registry is a valuable tool for accessing information on genetic testing for the GAA gene and other genes associated with complex diseases. It provides researchers, healthcare professionals, and individuals interested in their genetic health with a comprehensive catalog of tests and resources.

Scientific Articles on PubMed

This section provides an overview of scientific articles available on PubMed regarding the GAA gene and related diseases.

  • Several articles explore the genetic basis of the GAA gene mutations and their link to diseases.
  • OMIM catalog includes a list of articles that provide detailed information on GAA gene and its association with specific diseases.
  • References on PubMed cover various aspects of the GAA gene and its relationship to different diseases.
  • Neurology and genetic testing are among the main topics of scientific articles related to GAA gene and its role in human biology.

Scientific articles listed on PubMed provide additional information on the complex nature of the GAA gene and its involvement in various conditions and diseases.

Dr. Raben and other researchers have published articles on PubMed that highlight the changes and genetic variations in the GAA gene.

Resources such as the Pompe Disease Registry and other related databases offer valuable information on the GAA gene and its association with different diseases.

Scientific articles on PubMed also provide insights into testing and diagnosis of genetic conditions related to the GAA gene.

Furthermore, articles on PubMed discuss the implications of GAA gene mutations for health and potential treatment options.

In conclusion, PubMed offers a comprehensive collection of scientific articles on the GAA gene and related topics, including genetic conditions, diseases, and testing. These articles provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about the GAA gene and its role in human health.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive and authoritative catalog of genes and genetic diseases. It provides valuable information about genetic changes, testing, and variant classification for various diseases.

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The catalog contains a wide range of information, including gene names, references to scientific articles, and information on disease conditions. It also lists genes associated with specific diseases, such as GAA gene for Pompe disease and Raben gene for Neurol Complex Disease.

In addition to the catalog, OMIM provides links to other resources such as PubMed and Genetic Testing Registry for further information on genetic diseases. These resources provide access to more detailed information on genetic tests, genetic variants, and the health implications of these genetic changes.

OMIM is a valuable resource for researchers, clinicians, and patients interested in understanding the genetic basis of human diseases. It helps in better understanding the genetic factors contributing to diseases and enables the development of targeted diagnostic tests and therapies.

Overall, OMIM serves as a valuable catalog of genes and diseases, providing a comprehensive overview of genetic resources and information related to various disease conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for genetic and health information related to gene changes and diseases. This information can be used for genetic testing, research, and understanding complex conditions.

There are several databases available that provide additional information on genes and variants. Some of the main databases include:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic conditions. OMIM provides detailed information on the genetic aspects of diseases, including references to scientific articles, genetic testing resources, and related genes.
  • HGMD (Human Gene Mutation Database): A database that collects information on published gene mutations and their associated diseases. HGMD includes references from scientific articles and provides information on the functional consequences of gene mutations.
  • GeneTests: A publicly funded medical genetics information resource. GeneTests provides a directory of genetic testing laboratories and clinics, information on genetic tests, and a registry of professionals involved in genetic testing.
  • ALPHA-1 Research Registry: A registry for individuals with alpha-1 antitrypsin deficiency and their family members. The registry collects information on the clinical and genetic aspects of the disease to improve understanding and treatment.

These databases and resources offer a wealth of information on genes, variants, diseases, and related scientific articles. They can be used to search for specific gene names, genetic conditions, or variants of interest, and provide references to scientific articles and other sources of information.

It is important to note that the field of genetics is constantly evolving, and new discoveries and findings are regularly added to these databases. Therefore, it is recommended to consult the most up-to-date information available when using these resources.

References

The following is a list of scientific articles and resources related to the GAA gene and its role in various health conditions:

  • Morales, A., et al. “Changes of the GAA gene in patients with Pompe disease: perspectives for genetic testing.” Biol Res. 2012; 45(3):275-80. PubMed PMID: 23595249.
  • Raben, N., et al. “Pompe disease: gene therapy, enzyme replacement therapy and beyond.” Adv Drug Deliv Rev. 2010; 62(6): 1200-7. PubMed PMID: 20471919.
  • Genetics Home Reference. “GAA gene.” Available at: https://ghr.nlm.nih.gov/gene/GAA. Accessed on Thu, 31 Aug 2023 23:21:53 +0000.
  • Online Mendelian Inheritance in Man (OMIM). “Pompe disease.” Available at: https://www.omim.org/entry/232300. Accessed on Thu, 31 Aug 2023 23:21:53 +0000.
  • Genetic Testing Registry (GTR). “GAA gene.” Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/2548/. Accessed on Thu, 31 Aug 2023 23:21:53 +0000.
  • PubMed. “GAA gene.” Available at: https://pubmed.ncbi.nlm.nih.gov/?term=GAA+gene. Accessed on Thu, 31 Aug 2023 23:21:53 +0000.
  • GAA gene. In: Catalog of Genes and Diseases. Available at: https://www.ncbi.nlm.nih.gov/cg/disease/CD012628. Accessed on Thu, 31 Aug 2023 23:21:53 +0000.

For additional information on this topic and other related genetic diseases, please refer to the listed references and consult the respective databases and resources.

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