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The PHKA2 gene is a genetic mutation that is responsible for a rare metabolic disease known as Glycogen Storage Disease Type IXa. Although this gene is not well known, scientific research and registries have been established to gather information and provide resources for those affected by this condition.

Phosphorylase kinase, alpha 2 (PHKA2) is a gene listed in the PubMed database. It is known to be involved in the storage and breakdown of glycogen in various tissues. This gene is one of the subunits of the phosphorylase kinase enzyme, which plays a crucial role in glycogen metabolism.

The PHKA2 gene has been linked to a specific variant of Glycogen Storage Disease Type IXa. This variant is characterized by changes in the PHKA2 gene, which result in a dysfunctional enzyme and impaired glycogen storage. This can lead to various health conditions and symptoms associated with the improper storage of glycogen.

Further information about the PHKA2 gene and related genes can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and other genetic resources. These resources provide additional research articles, testing protocols, and information about related diseases and conditions.

Overall, the PHKA2 gene plays a significant role in glycogen storage and metabolism. Understanding its function and the genetic changes that can occur in this gene is crucial for diagnosing and managing Glycogen Storage Disease Type IXa and related conditions.

Genetic changes in the PHKA2 gene can result in various health conditions. These changes can be classified into different types of glycogen storage diseases, specifically those that affect the phosphorylase enzyme.

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Although there are other genes that are associated with glycogen storage diseases, this article will focus on the PHKA2 gene.

The PHKA2 gene provides instructions for making a subunit of the phosphorylase enzyme. Mutations in this gene can lead to a deficiency or a variant form of this enzyme, causing glycogen storage diseases.

To identify these genetic changes, scientific databases such as PubMed, OMIM, and the Genetic Testing Registry can be used. These databases provide more information on the genetic tests available for the PHKA2 gene and the diseases associated with it.

Some of the health conditions related to genetic changes in the PHKA2 gene include:

  • Glycogen storage disease type IX
  • Glycogen storage disease type 0
  • Glycogen storage disease type VI
  • Glycogen storage disease type III
  • Glycogen storage disease type I
  • Glycogenosis type IV
  • Glycogenosis type V

These health conditions are characterized by abnormal glycogen storage in various tissues of the body. The symptoms and severity of these conditions can vary depending on the specific mutation in the PHKA2 gene.

The Burwinkel lab has conducted extensive research on genetic changes in the PHKA2 gene and its association with glycogen storage diseases. Their studies have provided valuable insights into the molecular mechanisms underlying these conditions.

For additional resources and related information on health conditions related to genetic changes, please refer to the scientific catalogs and articles available in PubMed and OMIM.

Glycogen storage disease type IX

Glycogen storage disease type IX, also known as GSD IX, is a genetic condition caused by changes in the PHKA2 gene. This gene provides instructions for producing one of the subunits of the enzyme phosphorylase, which is responsible for breaking down glycogen into glucose in various tissues.

Glycogen storage diseases are a group of conditions in which the body cannot properly break down or store glycogen, resulting in abnormal glycogen accumulation in tissues. GSD IX is specifically caused by mutations in the PHKA2 gene.

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OMIM, a catalog of human genes and genetic conditions, provides more information on GSD IX. There are scientific articles related to this disease listed in PubMed, a database for scientific and health-related research. Additional resources can be found in other databases and registries.

Tests for GSD IX can be done to confirm the diagnosis. These tests usually involve examining the PHKA2 gene for changes or mutations. Genetic testing can help identify the specific variant of the gene that is causing the disease.

GSD IX can affect various tissues in the body, including the liver and muscle. The symptoms and severity of the disease can vary depending on the specific genetic changes and the affected tissues. Some individuals may experience mild symptoms, while others may have more severe complications.

Although there is currently no cure for GSD IX, management options are available to help control symptoms and prevent complications. Treatment may involve dietary adjustments, enzyme replacement therapy, and regular monitoring of glycogen storage levels.

For more information on glycogen storage disease type IX, you can refer to the OMIM database and PubMed for references and scientific articles. The Burwinkel lab is known for their scientific research on this condition and may have additional information and resources.

Other Names for This Gene

The PHKA2 gene is also known by other names in the scientific community. Some of these names are:

  • Burwinkel syndrome
  • Glycogen storage disease type IX
  • Phosphorylase kinase alpha 2 subunit
  • Glycogen storage disease type IXa

These alternative names can be found in references, databases, and registry resources related to testing and research on this gene. Additional information on this gene and related conditions can be found in articles and publications listed in PubMed, OMIM, and other genetic catalogs. Although the PHKA2 gene is listed with different names, it is known to be associated with glycogen storage diseases and the production of enzymes involved in glycogen storage.

Additional Information Resources

For more information on the PHKA2 gene and related conditions, glycogenosis, and subunits, you can refer to the following databases and resources:

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genes and genetic variants associated with various diseases including glycogen storage diseases. You can find more information on the PHKA2 gene and related conditions on OMIM.
  • PubMed: PubMed is a database of scientific articles and references. You can search for articles related to the PHKA2 gene, glycogen storage diseases, and other related topics on PubMed to gather more information.
  • Genet Test: Genet Test is a website that provides information on genetic testing for various diseases. You can find information on genetic tests available for the PHKA2 gene and glycogen storage diseases on Genet Test.
  • Glycogen Storage Disease Registry: The Glycogen Storage Disease Registry is a resource that collects information on patients with glycogen storage diseases. You can find more information on the PHKA2 gene and related conditions from the registry.

Although the resources listed above provide valuable information, it’s important to consult with healthcare professionals and geneticists for additional testing and health advice related to the PHKA2 gene and glycogen storage diseases.

Tests Listed in the Genetic Testing Registry

The PHKA2 gene, also known as the phosphorylase kinase alpha 2 subunit gene, is associated with a group of enzymes that are involved in glycogen storage. Mutations in this gene can lead to various types of glycogen storage diseases.

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for the identification of changes in the PHKA2 gene and other related genes. These tests are used to diagnose and classify different types of glycogen storage diseases.

There are numerous tests listed in the GTR for glycogen storage diseases associated with the PHKA2 gene and its related genes. These tests are named according to the specific condition or disease they are used to identify.

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Each test listed in the GTR has a citation, which includes references to scientific articles, databases, and other resources that provide more information about the test. The tests are also linked to PubMed and OMIM, which are databases that provide additional scientific information related to genetic testing and genetic diseases.

Some of the tests listed in the GTR include:

  • PHKA2 gene variant testing for glycogen storage disease IX
  • Genetic testing for changes in enzymes related to glycogen storage diseases
  • PHKA2 gene sequencing for diagnosis of glycogen storage diseases
  • Testing for mutations in genes known to be associated with glycogen storage diseases

These tests are performed on various tissues, such as blood or muscle, to detect mutations or changes in the PHKA2 gene and other related genes.

In addition to the tests specifically related to the PHKA2 gene, the GTR also lists more general tests for glycogen storage diseases, although these may not specifically target the PHKA2 gene.

Overall, the Genetic Testing Registry is a valuable resource for accessing information on genetic tests for glycogen storage diseases associated with the PHKA2 gene and related genes. It provides references, scientific articles, and other resources to aid in the diagnosis, classification, and understanding of these diseases.

References:

  1. Burwinkel B. et al. (1996) Eur J Hum Genet. 4(2):70-4. PMID: 8800921.
  2. Burwinkel B. et al. (1998) Hum Genet. 102(4):467-73. PMID: 9600237.
  3. PHKA2 gene – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/PHKA2.

Note: The information provided here is for educational purposes only. For specific health concerns and testing information, consult with a healthcare professional.

Scientific Articles on PubMed

The PHKA2 gene, also known as the alpha subunit of phosphorylase kinase (PHK), is associated with a rare genetic disease called glycogen storage disease type IX (GSD IX).

GSD IX is a group of inherited conditions that affect the storage of glycogen in tissues and can result in various health problems. The PHKA2 gene is one of the genes that encodes the subunits of PHK, an enzyme involved in glycogen metabolism.

Scientific articles on PubMed provide valuable information about the PHKA2 gene and the associated diseases. These articles include studies, reviews, and clinical reports that investigate the genetic changes, diagnostic testing, and clinical features of GSD IX.

The PubMed database, a catalog of scientific articles, is a valuable resource for researchers, healthcare professionals, and individuals seeking more information about GSD IX and related conditions. PubMed provides access to articles from various scientific journals and allows users to search for specific topics or keywords.

Some of the articles listed on PubMed discuss the genetic changes associated with GSD IX and the role of the PHKA2 gene in the disease. Others explore diagnostic testing methods, clinical features, and management strategies for individuals with GSD IX.

Additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database, provide further information on the PHKA2 gene and glycogen storage diseases. OMIM includes variant names, genetic testing information, and references to related scientific articles.

In summary, scientific articles on PubMed provide valuable information on the PHKA2 gene, glycogen storage diseases, and the role of PHK enzymes in glycogen metabolism. Researchers and healthcare professionals can use these resources to further their understanding of GSD IX and develop effective diagnostic and management strategies for affected individuals.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information on health conditions and their genetic basis. This scientific resource is widely used by researchers, clinicians, and other medical professionals to better understand the underlying genetic causes of diseases.

Among the numerous genes documented in OMIM, the PHKA2 gene is one of particular interest. It encodes a subunit of the phosphorylase kinase, an enzyme involved in glycogen storage. Variants in this gene can lead to glycogen storage disease type IX, also known as phosphorylase kinase deficiency glycogenosis. This disease is characterized by impaired glycogen breakdown and storage in various tissues.

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The OMIM catalog provides a wealth of information on the PHKA2 gene and its associated conditions. Here, you can find details on the gene’s structure, function, and the specific changes (variants) known to be associated with glycogen storage diseases. The catalog also includes references to scientific articles and external databases for additional resources and further reading.

Testing for variants in the PHKA2 gene can be conducted to diagnose glycogen storage diseases and related genetic conditions. This type of genetic testing helps clinicians determine the underlying cause of a patient’s symptoms and guide treatment decisions. OMIM serves as a valuable reference for healthcare professionals seeking information on the PHKA2 gene and associated diseases.

In the context of glycogen storage diseases, OMIM provides a comprehensive registry of related genes and conditions. It offers a reliable and up-to-date resource for understanding the genetic basis of these diseases, facilitating research and clinical management. OMIM helps bridge the gap between scientific knowledge and medical practice, benefiting patients and healthcare providers alike.

In conclusion, the catalog of genes and diseases from OMIM is an invaluable scientific resource, providing detailed information on the PHKA2 gene and its associated conditions. Healthcare professionals can rely on this catalog to better understand the genetic basis of glycogen storage diseases and leverage this knowledge for accurate diagnosis and targeted treatment strategies.

Gene and Variant Databases

Gene and variant databases are comprehensive collections of genetic information related to specific genes and their variants. These databases serve as valuable resources for scientists and healthcare professionals studying the genetic basis of diseases and disorders, and for individuals interested in understanding their own genetic makeup.

Listed below are some of the most widely used gene and variant databases:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genetic diseases and conditions, known as Mendelian disorders, that are caused by mutations in single genes. It provides information on the genes, their associated diseases, the mode of inheritance, and supporting scientific references and articles.

  • GeneTests: GeneTests is a diagnostic testing and information resource for genetic conditions. It provides access to a registry of clinical testing laboratories and a catalog of genetic tests for various diseases and genetic conditions.

  • PubMed: Although not specifically a gene and variant database, PubMed is a widely used scientific database that provides access to a large collection of scientific research articles, including those related to genes, variants, and genetic diseases. It is a valuable resource for finding additional references and citation information.

These databases store information about gene variants, such as the PHKA2 gene variant, which is associated with glycogen storage diseases, specifically glycogen storage disease type IX. Glycogen storage diseases are a group of genetic disorders caused by changes in enzymes or genes involved in the metabolism of glycogen, a storage form of glucose in tissues.

The PHKA2 gene encodes one of the subunits of the glycogen phosphorylase enzyme, which plays a crucial role in glycogen metabolism. Mutations in the PHKA2 gene can lead to a deficiency in glycogen phosphorylase activity, resulting in glycogen storage disease type IX.

Genetic testing is available to detect mutations in the PHKA2 gene and confirm a diagnosis of glycogen storage disease type IX. Healthcare providers can use the information from gene and variant databases to guide genetic testing and provide appropriate care for individuals with this condition.

References

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