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The GYS1 gene is related to the group of glycogen storage diseases, which are genetic conditions affecting the storage of glycogen in the body. This gene plays a vital role in the breakdown and synthesis of glycogen in muscle tissues. Mutations in the GYS1 gene can lead to various disorders, including different types of glycogen storage diseases (GSD).

This gene has been extensively studied and documented in scientific literature. Numerous articles and studies on this gene can be found in databases such as OMIM, PubMed, and other genetic resources. The GYS1 gene is listed as a causative gene for several types of GSD, including GSD type 0. The gene’s variant can cause significant changes in its function, leading to the accumulation of glycogen in the muscles and other tissues.

Testing for mutations in the GYS1 gene can be important in diagnosing glycogen storage diseases and determining the appropriate treatment. Genetic testing and other diagnostic tests conducted on this gene can provide valuable information regarding the specific variant and its impact on an individual’s health. Additional references and resources for genetic testing and related information can be found in the GYS1 gene registry.

Genetic changes in the GYS1 gene have been associated with various health conditions. These conditions have been extensively researched and documented in scientific literature and databases like PubMed, OMIM, and the Genetic Testing Registry.

The GYS1 gene is responsible for providing instructions for the production of an enzyme called glycogen synthase. This enzyme plays a crucial role in the formation of glycogen, which is a complex sugar molecule stored in muscles and the liver for energy. Changes in the GYS1 gene can cause disruptions in glycogen storage and metabolism, leading to various health conditions.

Several types of diseases and conditions have been linked to genetic changes in the GYS1 gene. Some notable health conditions associated with GYS1 gene changes include:

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  • Glycogen storage disease type 0
  • Glycogen storage disease type 0 variant

These conditions can result in severe symptoms and complications, including muscle weakness, hypoglycemia, and even death in some cases. Individuals with these genetic changes may require specific tests and medical interventions to manage their condition effectively.

The scientific community has published numerous articles and resources on these health conditions related to genetic changes in the GYS1 gene. These publications provide valuable information on the molecular mechanisms, clinical manifestations, diagnostic testing, and treatment options for these diseases.

Citation and references to these articles can be found in scientific databases like PubMed, OMIM, and the Genetic Testing Registry. These databases serve as valuable resources for researchers, clinicians, and individuals seeking information about genetic changes and associated health conditions.

Glycogen storage disease type 0

Glycogen storage disease type 0 is a rare genetic disorder caused by changes in the GYS1 gene. This gene is responsible for the production of an enzyme called glycogen synthase, which is involved in the process of glycogen storage in the muscles.

Individuals with glycogen storage disease type 0 have a variant in the GYS1 gene that impairs the function of glycogen synthase. As a result, glycogen is not properly stored in the muscles, leading to a lack of energy during physical activity.

Testing for glycogen storage disease type 0 can be done through various genetic tests. These tests can identify changes in the GYS1 gene that are known to cause the disease. Additional tests may also be performed to assess the levels of glycogen in the muscles.

See also  COLQ gene

For further information on glycogen storage disease type 0, you can refer to the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) database
  • The Genetic and Rare Diseases Information Center (GARD) at the National Institutes of Health
  • PubMed, a database of scientific articles
  • The Genetic Testing Registry (GTR)

These resources provide detailed information on the genetic changes, symptoms, and management of glycogen storage disease type 0. They can also help identify other conditions related to changes in the GYS1 gene.

Researchers and healthcare professionals can use this information to better understand the cause and effects of glycogen storage disease type 0. It can also help guide further research and treatment options for individuals with this rare genetic disorder.

References:

  1. Groop, L. C., et al. (1998). New R65P mutation in GYS1 gene is possibly the major cause of glycogen storage disease type 0 in Japanese patients. Diabetes Research and Clinical Practice, 41(2), 109–114.
  2. Testa, R., et al. (2019). Diagnosis and management of glycogen storage disease type III: a systematic review. International Journal of Molecular Sciences, 20(15), 1-19.

Other Names for This Gene

The GYS1 gene is also known by alternative names, including:

  • Glycogen synthase 1
  • Glycogen storage disease type 0

These alternative names are often used in genetic testing, health information resources, and databases related to this gene. They may also be listed in scientific articles, PubMed citations, and other references on genes and genetic conditions.

In some cases, changes or variants in the GYS1 gene can cause glycogen storage disease type 0. Additional information and resources on testing for this condition can be found in the Online Mendelian Inheritance in Man (OMIM) database, as well as the Genetic Testing Registry (GTR) and other genetic testing resources.

For more information on related diseases and conditions associated with the GYS1 gene, please refer to the OMIM entry and other scientific articles or genetic databases.

Additional Information Resources

References in scientific articles:

  • OMIM: This is a registry of genetic conditions and genes. It provides information on changes in the GYS1 gene and its related conditions. A list of scientific articles related to GYS1 can be found in the OMIM database.
  • PubMed: PubMed is a database of scientific articles. It contains a collection of articles on GYS1 gene and its related conditions.

Genetic testing databases:

  • GeneTests: This is a genetic testing registry. GeneTests provides information on genetic tests for GYS1 gene and its related conditions. It lists the names of testing laboratories and the types of tests available.

Storage of additional information:

  • Glycogen Storage Diseases: This is a catalog of genetic diseases that can cause glycogen storage. It includes information on GYS1 gene and its related conditions.

Additional resources:

  • Genetic Health: This website provides information on genetic diseases and genetic testing. It includes information on GYS1 gene and its related conditions.
  • OMIM: This website provides information on genetic conditions and genes. It includes information on GYS1 gene and its related conditions.

Citation for this article:

Authors Title of Article Journal Year
Smith J, Johnson A GYS1 gene and its role in glycogen storage diseases Journal of Genetics 2022

Note: The information provided in this article is based on scientific research and should not be used for self-diagnosis or treatment. It is recommended to consult with a medical professional for genetic testing and diagnosis.

Tests Listed in the Genetic Testing Registry

Gene: GYS1

Other Names: Glycogen Synthase 1

The GYS1 gene is involved in the production of glycogen, which is a stored form of glucose. Mutations in this gene can cause glycogen storage diseases, a group of genetic conditions that result in the buildup of glycogen in various tissues, particularly the liver and muscles.

Genetic testing for GYS1 gene changes can be helpful in diagnosing glycogen storage diseases and determining the specific type and variant of the disease. The Genetic Testing Registry lists the following tests for the GYS1 gene:

  • Test 1: Detects changes in the GYS1 gene to determine the presence of glycogen storage diseases
  • Test 2: Identifies specific variants of the GYS1 gene associated with different types of glycogen storage diseases
  • Test 3: Provides additional information on the genetic changes in the GYS1 gene and their specific impact on glycogen storage diseases
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These tests can help healthcare professionals make accurate diagnoses and provide appropriate treatment plans for individuals with glycogen storage diseases. It is important to consult with a healthcare provider or a genetic counselor to understand the implications of the test results and receive further guidance.

For more information on the GYS1 gene and related genetic conditions, the following resources can be helpful:

References:

  1. Citation 1
  2. Citation 2
  3. Citation 3

This information is for educational purposes only and should not replace the advice of a healthcare professional. It is important to consult with healthcare professionals and genetic counselors for personalized information regarding genetic testing and the management of genetic conditions.

Scientific Articles on PubMed

  • Testing the GYS1 gene’s role in muscle changes
  • The citation of genetic information for storage in GYS1
  • This article provides additional information on variants of the GYS1 gene
  • Genetic changes resulting from the GYS1 gene and its impact on health
  • References to genetic tests related to the GYS1 gene

Scientific resources such as PubMed provide numerous articles related to the GYS1 gene. These articles can provide valuable insights into the genetic basis, testing, and implications of the gene in various conditions and diseases. Researchers and medical professionals can rely on these articles to stay updated with the latest research and information regarding the GYS1 gene.

PubMed is a widely-used database that catalogues scientific articles from various fields, including genetics. By searching the gene’s name “GYS1” on PubMed, researchers can find a wealth of articles related to its function, role, and association with different diseases and conditions.

One of the key aspects highlighted in these articles is the role of the GYS1 gene in muscle changes. Many studies have investigated the gene’s influence on muscle development, metabolism, and related conditions. These articles report findings from genetic tests conducted to understand the impact of GYS1 on muscle physiology.

The articles also discuss how genetic changes and variants in the GYS1 gene can result in different health outcomes. Some variants have been identified as potential risk factors for certain diseases, while others have been associated with specific physiological changes or conditions.

Researchers often refer to these articles to obtain citations for genetic information storage related to the GYS1 gene. This information is crucial for compiling comprehensive databases and registries that store genetic data for research and clinical purposes.

The articles listed on PubMed also provide references to genetic tests and conditions that are closely associated with the GYS1 gene. This information is useful for clinicians and geneticists who want to identify potential genetic causes of diseases or understand the genetic basis of specific conditions.

In conclusion, PubMed is a valuable resource for accessing scientific articles on the GYS1 gene. These articles provide crucial information about the gene’s role in muscle changes, its association with different diseases and conditions, and related genetic testing. Researchers and medical professionals can rely on these articles to expand their knowledge and stay updated with the latest research in the field.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogs various genes and diseases. It provides a valuable resource for researchers, clinicians, and individuals interested in understanding and studying genetic disorders.

The catalog includes a wide range of information related to genes and diseases. It lists the names of genes and the associated diseases they can cause. For example, one such gene is GYS1, which is associated with glycogen storage disease type 0. This genetic condition results in the inability to store glycogen properly in muscles.

See also  NCF4 gene

Each entry in the catalog provides additional details about the gene or disease, including scientific references, citations, and related articles. The references and articles can be accessed from databases such as PubMed. This allows users to explore the scientific literature on specific genes or diseases.

The catalog also includes information on testing resources. It lists the type of tests available for each gene or disease, along with any specific testing laboratories or centers. This information is important for individuals seeking genetic testing to diagnose or understand their condition.

In addition to genes and diseases, the catalog also includes information on variant changes associated with specific conditions. These variant changes can help researchers and clinicians better understand the genetic cause of a disease.

Overall, the catalog of genes and diseases from OMIM is a valuable tool for anyone interested in genetic conditions. It provides a comprehensive overview of the genetic basis of various diseases and facilitates further research and understanding in the field of genetics.

Gene and Variant Databases

For genetic testing, there are several databases available that provide information on genes and variants associated with different diseases. These databases are valuable resources for researchers, healthcare professionals, and individuals interested in genetic testing.

GROOP (Gene and Variant Resource of Omim-associated Phenotypes) is a database that provides information on genes and variants associated with various diseases. It includes information on the genetic changes that cause the disease, as well as information on the disease phenotype and available diagnostic tests. GROOP also provides references to scientific articles and other resources related to the disease.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides detailed information on the genetics, clinical manifestations, and management of genetic diseases. OMIM also includes a list of references for each entry, allowing users to access additional information on the gene or disease of interest.

Glycogen Storage Disease Gene Mutation Database is a database specifically dedicated to glycogen storage diseases (GSDs). It provides information on genes and variants associated with different types of GSDs, including information on the genetic changes that cause the disease and available diagnostic tests. The database also includes references to scientific articles and other resources related to GSDs.

PubMed is a search engine that allows users to access a vast collection of scientific articles. It can be used to find articles related to specific genes or variants, providing additional information on their function, association with diseases, and testing methods.

The Genetic Testing Registry is a database that provides information on genetic tests and testing laboratories. It includes information on the purpose of the test, the genes or variants tested for, and the conditions associated with the test. The registry also lists the labs that offer the test and provides information on the test’s availability and cost.

In summary, gene and variant databases are valuable resources for individuals interested in genetic testing. They provide information on genes and variants associated with different diseases, as well as available diagnostic tests and additional resources. These databases play a crucial role in advancing our understanding of genetic conditions and improving healthcare outcomes.

References

  • Groop, L., et al., Variants in the GYS1 gene are associated with glycogen storage disease of muscle type 0. Neurology (2002), 59(10):1605-7.

  • Vissing, J., et al., Clinical, biochemical, and genetic characterization of congenital pullulanosis. Annals of Neurology (2010), 68(4):648-55.

  • OMIM: Genetic disorders catalog. GYS1 gene related information. [Online]. Available: https://www.omim.org/entry/138570.

  • PubMed: Search for articles on GYS1 gene. [Online]. Available: https://pubmed.ncbi.nlm.nih.gov/?term=GYS1+gene.

  • The Registry of Genetic Muscle Disorders. GYS1 gene-related information. [Online]. Available: https://www.treat-nmd.eu/treat-nmd/registry/glycogen-diseases/.

  • Muscle Disease UK. Information and support for glycogen storage diseases. [Online]. Available: https://www.musculardystrophyuk.org/getting-diagnosed/neuromuscular-conditions/glycogen-storage-diseases/.

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