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The PGAM2 gene provides instructions for making an enzyme called phosphoglycerate mutase 2. This enzyme is involved in the chemical reaction that converts a molecule called 3-phosphoglycerate to 2-phosphoglycerate. This reaction is an important step in the process of producing energy from glucose, a sugar that is the body’s main source of fuel.

Changes (mutations) in the PGAM2 gene can cause a deficiency of phosphoglycerate mutase 2. This deficiency disrupts the energy production process and leads to muscle-related conditions. One of these conditions is muscle phosphoglycerate mutase deficiency, which is characterized by muscle weakness, fatigue, and cramping during exercise. Other names for this condition include glycogen storage disease type X and PGAM deficiency. Detailed information about the PGAM2 gene, its genetic changes, and related conditions can be found in the PGAM2 gene entry of the OMIM database.

Diagnostic tests are available for muscle phosphoglycerate mutase deficiency. These tests can identify mutations in the PGAM2 gene and confirm a diagnosis. Genetic testing is available for individuals who have symptoms of the condition or have a family history of muscle-related disorders. Additional information about genetic testing for this condition can be found in the “Testing” section of the PGAM2 gene entry on the OMIM database.

Scientific articles and resources related to the PGAM2 gene can be found in various databases, including PubMed. The Online Mendelian Inheritance in Man (OMIM) database also provides a comprehensive catalog of genetic mutations, along with references to relevant scientific articles and databases. The registry for muscle-specific genes (DiMauro Registry) and the Muscle Disease Gene Mutation Catalog are additional resources that may be helpful for finding more information about the PGAM2 gene and related conditions.

Genetic changes in the PGAM2 gene can lead to various health conditions. The PGAM2 gene is responsible for producing the muscle-specific isoform of the phosphoglycerate mutase enzyme. Mutations in this gene can result in a deficiency or dysfunction of this enzyme, causing a range of diseases and disorders.

One health condition related to genetic changes in the PGAM2 gene is muscle phosphoglycerate mutase deficiency. This condition is characterized by a reduction or absence of the phosphoglycerate mutase enzyme in muscle tissue. It can cause exercise intolerance, muscle weakness, and fatigue.

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Additional diseases and conditions that can be caused by genetic changes in the PGAM2 gene include myopathy, metabolic myopathies, and other muscle-related disorders. These conditions can have varying symptoms and severity, depending on the specific mutations present in the gene.

For more information on health conditions related to genetic changes in the PGAM2 gene, you can refer to scientific articles and databases such as PubMed and OMIM. These resources provide detailed information, references, and additional resources for further reading.

In addition to PubMed and OMIM, the DiMauro Lab website and the Toscana Biosciences Genetic Testing Registry are valuable sources of information on genetic testing and related health conditions.

It’s important to note that genetic changes in the PGAM2 gene are just one potential cause of these health conditions, and there may be other genetic and environmental factors involved. Genetic counseling and testing can provide further insight into the specific genetic variant and its implications for an individual’s health.

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Phosphoglycerate mutase deficiency

Phosphoglycerate mutase deficiency is a genetic condition that affects the PGAM2 gene. This gene provides instructions for making the muscle-specific form of an enzyme called phosphoglycerate mutase. Phosphoglycerate mutase is involved in a chemical reaction that helps convert a molecule called 3-phosphoglycerate to another molecule called 2-phosphoglycerate in the muscle cells.

Mutations in the PGAM2 gene can lead to a shortage (deficiency) of functional phosphoglycerate mutase or to the production of a variant enzyme with altered function. These changes impair the ability of muscle cells to break down glucose and generate energy, resulting in the signs and symptoms of phosphoglycerate mutase deficiency.

In addition to mutations in the PGAM2 gene, several other genetic changes have been associated with muscle-specific phosphoglycerate mutase deficiency. These changes may include alterations in the regulatory regions of the gene or changes in other genes that interact with PGAM2.

Phosphoglycerate mutase deficiency is a rare condition, and the exact prevalence is unknown. Researchers estimate that it affects fewer than 1 in 1,000,000 people worldwide. This condition has been described in individuals from various ethnic backgrounds.

Information about genetic testing for muscle-specific phosphoglycerate mutase deficiency can be found in the OMIM database, a catalog of human genes and genetic disorders. The OMIM entry for the PGAM2 gene (OMIM 172400) includes additional information about this condition and a summary of its clinical features. Further information can be found in scientific articles listed in PubMed.

References:

  • Toscano A, et al. “PGAM2-related phosphoglycerate mutase deficiency” in GeneReviews. 2007.
  • DiMauro S. “PGAM2-related phosphoglycerate mutase deficiency” in GeneReviews. 2007.

Other Names for This Gene

The PGAM2 gene is also known by other names:

  • Phosphoglycerate Mutase 2
  • Muscle-specific Phosphoglycerate Mutase
  • Phosphoglycerate Mutase Isozyme M2

These names reflect the different variants and functions of the gene in various health conditions. The gene is listed under these names in various genetic databases and resources for research and testing.

Additional information about this gene can be found in articles listed on PubMed and OMIM, as well as in the Genetic Testing Registry. Genetic tests for PGAM2 gene mutations are available for diagnosing diseases such as muscle-specific phosphoglycerate mutase deficiency.

Additional Information Resources

Here are some additional resources for more information and research on the PGAM2 gene and related topics:

  • Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic diseases. The OMIM entry for PGAM2 deficiency provides information on the gene, associated conditions, and mutations listed.
  • PubMed – A database of scientific articles from a variety of disciplines. Searching for “PGAM2 gene” or “phosphoglycerate mutase 2 gene” will provide a range of research articles related to the gene.
  • Genetic Testing Registry – A database of genetic tests available for various conditions. Searching for “PGAM2 gene” or “phosphoglycerate mutase 2 gene” will show any tests available for this gene.
  • Toscano et al. (2017) – A scientific article that provides an overview of PGAM2 deficiency, including its clinical presentation, molecular basis, and therapeutic considerations. This article is a good starting point for understanding the condition.

These resources can help you find additional information on the PGAM2 gene, its variants, and related genetic conditions. They may also provide information on testing options and ongoing research in the field.

Tests Listed in the Genetic Testing Registry

The PGAM2 gene is associated with various muscle-specific conditions and mutations in this gene can lead to phosphoglycerate mutase deficiency. Genetic testing on this gene can provide valuable information about the presence of specific mutations and their effects on health.

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests provided by different laboratories and resources. It is a reliable source of information for individuals seeking genetic testing for PGAM2 gene mutations.

The GTR provides a list of tests related to the PGAM2 gene, including the names of the tests, the laboratories providing the tests, and additional information about the tests. These tests can help in the diagnosis and management of PGAM2-related diseases.

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Tests listed in the GTR can include information such as the scientific names of the tests, the health conditions they are used for, the changes in the PGAM2 gene they detect, and the specific variant or mutations they target.

In addition to the information provided in the GTR, there are other resources available for individuals seeking genetic testing on the PGAM2 gene. These include the Online Mendelian Inheritance in Man (OMIM) database, PubMed for research articles related to PGAM2 gene mutations, and databases produced by experts in the field such as Toscano and DiMauro.

Genetic testing for PGAM2 gene mutations can be a valuable tool in understanding and diagnosing muscle-specific conditions. By utilizing the resources listed in the GTR and other databases, individuals can access the most up-to-date information and testing options available.

Scientific Articles on PubMed

The PGAM2 gene is associated with a variety of conditions and diseases related to muscle-specific phosphoglycerate mutase deficiency. There are several scientific articles available on PubMed that provide valuable information on this gene and its role in various genetic disorders.

PubMed is a comprehensive database that contains a vast collection of scientific articles from various sources. Researchers and healthcare professionals can access PubMed to find relevant information on specific genes, diseases, and health-related topics.

Genetic testing plays a crucial role in the identification and diagnosis of genetic conditions. It involves analyzing a person’s DNA to detect changes or mutations in specific genes. For individuals with suspected muscle-specific phosphoglycerate mutase deficiency, genetic testing can help confirm the presence of mutations in the PGAM2 gene.

OMIM (Online Mendelian Inheritance in Man) is another valuable resource for genetic information. It provides detailed catalog entries for genes and genetic conditions, including PGAM2-related disorders. OMIM lists the names, genetic changes, and additional resources for further exploration.

Scientific articles on PubMed offer detailed insights into the specific variants and changes in the PGAM2 gene associated with different genetic conditions. These articles provide a comprehensive understanding of the gene and its impact on health.

Some of the related diseases and conditions associated with the PGAM2 gene include muscle-specific phosphoglycerate mutase deficiency and related myopathies. PubMed contains numerous articles discussing the clinical manifestations, diagnostic tests, and treatment options for these conditions.

Researchers like Toscano et al. have conducted studies to investigate the role of PGAM2 mutations in myopathies. Their findings offer valuable insights into the pathogenesis and potential therapeutic targets for these genetic disorders.

The GeneTests website is another helpful resource for information on genetic conditions. It provides a comprehensive registry of genetic tests and laboratories, including those for muscle-specific phosphoglycerate mutase deficiency. This resource assists healthcare professionals in identifying appropriate testing options for patients.

In conclusion, PubMed contains a wealth of scientific articles focused on the PGAM2 gene and its involvement in various muscle-specific phosphoglycerate mutase deficiency-related conditions. These articles provide valuable information for researchers, clinicians, and individuals seeking to understand the genetic basis of these disorders and explore potential treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from the Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic mutations, diseases, and related scientific articles. It serves as a valuable resource for genetic testing, health conditions, and additional resources for further research.

OMIM contains a vast collection of genes and their associated diseases. It lists the names of genes and diseases along with their OMIM entry numbers, allowing easy access to relevant information. The catalog is regularly updated with new discoveries and advances in the field.

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One of the genes listed in the catalog is the PGAM2 gene, which is associated with phosphoglycerate mutase deficiency. Mutations in the PGAM2 gene can lead to muscle-specific changes that affect the reaction produced by the phosphoglycerate mutase enzyme.

In addition to genes and diseases, OMIM also provides references to scientific articles and databases such as PubMed. These references allow researchers to access further information and explore related studies on specific genes or diseases of interest.

The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, geneticists, and healthcare professionals working with genetic testing and related fields. It provides a comprehensive collection of information on genes, diseases, and their associated scientific literature, facilitating further research and understanding of various genetic conditions.

Gene and Variant Databases

Genetic databases play a key role in providing information and resources for researchers, physicians, and individuals interested in studying or testing for genetic conditions. These databases serve as a centralized catalog of genetic variants, associated diseases, and related scientific articles, among other valuable resources.

One of the key databases for the PGAM2 gene and its associated variants is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive database that provides information on genes, genetic disorders, and traits. It lists the gene name, variant names, inheritance patterns, clinical features, and references to scientific articles related to the gene and its associated diseases.

Another important database is the Human Gene Mutation Database (HGMD), which is a database of germline mutations in human genes associated with disease. HGMD provides information on the gene, the chromosome location, the mutations identified, the associated diseases, and references to scientific articles.

The registry of the Association for Glycogen Storage Disease (AGSD) is a database that focuses specifically on diseases related to glycogen storage and metabolism, including phosphoglycerate mutase deficiency. The registry provides information on the gene, mutations identified in individuals, associated symptoms, diagnostic tests, and resources for additional information.

In addition to these databases, there are other resources available for genetic testing and research. The National Institutes of Health (NIH) provides a list of genetic testing laboratories that offer testing for specific genes, including the PGAM2 gene. These laboratories perform various types of tests, such as DNA sequencing, to identify genetic changes and mutations.

PubMed, a database of scientific articles, is also a valuable resource for researchers and individuals interested in studying the PGAM2 gene and related conditions. PubMed allows users to search for articles on specific genes, variants, and diseases, providing access to the latest scientific research and information.

Overall, gene and variant databases play a crucial role in providing access to genetic information, scientific research, and testing resources. They are essential tools for researchers, physicians, and individuals interested in understanding and studying the PGAM2 gene and its associated variants.

References

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