The PGK1 gene is responsible for encoding the phosphoglycerate kinase enzyme, which plays a crucial role in the glycolysis pathway. This pathway is responsible for converting glucose into energy in the form of ATP. Phosphoglycerate kinase is an important kinase in this pathway, catalyzing the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate. Deficiency of the PGK1 gene can lead to various conditions and diseases that affect the neurological and muscular systems.

PGK1 deficiency is a rare genetic condition that can present in different forms. The severity of the condition can vary depending on the specific genetic changes in the PGK1 gene. Symptoms can include muscle weakness, neurological abnormalities, and metabolic disruptions. Testing for PGK1 deficiency can be done through genetic testing, and additional diagnostic tests may be done to evaluate the extent of the condition and its impact on overall health.

Information about the PGK1 gene and related conditions can be found in various resources, including scientific articles, databases, and genetic registries. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the gene, its variants, and associated diseases. PubMed is another valuable resource for accessing scientific articles and references related to the PGK1 gene. The Genetic Testing Registry (GTR) also provides information about testing options and available resources for PGK1 deficiency.

Health Conditions Related to Genetic Changes

Genetic changes in the PGK1 gene can lead to various health conditions. The PGK1 gene is responsible for encoding the phosphoglycerate kinase 1 enzyme, which plays a crucial role in the glycolytic pathway.

Some of the health conditions associated with genetic changes in the PGK1 gene include:

• Chronic neurological conditions
• Deficiency in phosphoglycerate kinase
• Different types of genetic variants

These genetic changes can cause a wide range of symptoms and may lead to the development of various diseases. Scientists have identified different variants of the PGK1 gene that are known to be associated with these health conditions.

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To learn more about these health conditions and genetic changes in the PGK1 gene, researchers and healthcare professionals can refer to various databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and the Genetic Testing Registry. These resources provide additional information, scientific articles, and references related to the PGK1 gene and its associated conditions.

Genetic testing can also be conducted to identify specific changes in the PGK1 gene and confirm a diagnosis. This can help individuals and their healthcare providers understand the underlying cause of their condition and develop appropriate treatment plans.

It is important to note that genetic changes in the PGK1 gene can have different effects on individuals. Some genetic variants may result in mild symptoms, while others may cause more severe health conditions. Therefore, it is crucial for individuals with suspected genetic changes in the PGK1 gene to consult with a healthcare professional for proper diagnosis and management.

Phosphoglycerate kinase deficiency

Phosphoglycerate kinase deficiency (PGK1 deficiency) is a genetic condition listed in the Online Mendelian Inheritance in Man (OMIM) catalog. It is a chronic condition caused by changes (mutations) in the PGK1 gene, which is responsible for the production of the phosphoglycerate kinase enzyme.

The phosphoglycerate kinase enzyme plays a crucial role in the energy production process within cells. It is involved in a reaction that converts 1,3-diphosphoglycerate (1,3-DPG) into 3-phosphoglycerate (3-PG) during glycolysis, the metabolic pathway that breaks down glucose for energy.

Individuals with phosphoglycerate kinase deficiency may experience a wide range of symptoms, including muscle weakness, exercise intolerance, myopathy, hemolytic anemia, and neurological problems. The severity of the condition can vary between affected individuals and even within the same family.

Diagnosis of phosphoglycerate kinase deficiency may involve various tests, including genetic testing to identify mutations in the PGK1 gene. Health care professionals may also perform biochemical tests to assess the enzyme activity level and measure the levels of 1,3-DPG and 3-PG in the blood.

Phosphoglycerate kinase deficiency is a rare condition, and additional research is needed to understand its underlying mechanisms and develop targeted treatments. The Genetic and Rare Diseases Information Center (GARD) provides resources and information on this and other genetic conditions.

Scientific articles and references related to phosphoglycerate kinase deficiency can be found in databases such as PubMed. The Human Gene Mutation Database (HGMD) and ClinVar are also valuable resources for information on genetic changes associated with this condition.

Phosphoglycerate kinase deficiency is just one type of deficiency caused by mutations in different genes involved in glycolysis. Other gene deficiencies include those affecting enzymes such as glucose-6-phosphate isomerase, pyruvate kinase, and triosephosphate isomerase.

The PGK1 gene variant associated with phosphoglycerate kinase deficiency is known to cause changes in the structure or function of the enzyme, leading to its reduced or absent activity. This results in impaired energy production and affects various tissues and organs throughout the body.

The National Organization for Rare Disorders (NORD) and the European Consortium of Geneticists Participating in the Population Study of Genetic Diseases in Catalonia (ERDCAT) maintain a registry for phosphoglycerate kinase deficiency and other rare genetic conditions. This registry helps collect data to better understand the condition, facilitate research, and improve patient care.

In summary, phosphoglycerate kinase deficiency is a rare genetic condition caused by mutations in the PGK1 gene. It affects the production of the phosphoglycerate kinase enzyme, leading to impaired energy production and various health problems. Research and resources are available to better understand this condition and provide support for individuals and families affected by it.

Other Names for This Gene

The PGK1 gene is also known by the following names:

• Phosphoglycerate kinase 1
• PGK-1
• Phosphoglycerate kinase muscle type

These other names reflect different aspects of the gene’s function and its association with various conditions and diseases.

Phosphoglycerate kinase 1 is a kinase, an enzyme that catalyzes the transfer of a phosphate group from a donor molecule to a recipient molecule. This gene is specifically involved in the reaction that converts 1,3-diphosphoglycerate to 3-phosphoglycerate in glycolysis, an important metabolic pathway.

The PGK1 gene is known for its role in neurological conditions, particularly in cases of PGK deficiency. This condition is a rare genetic disorder characterized by a lack of functional phosphoglycerate kinase 1 enzyme. It can result in chronic hemolytic anemia, muscle weakness, and neurological symptoms.

References to this gene can be found in scientific articles, databases, and resources related to genetic conditions and diseases. The Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and the Genetic Testing Registry are some of the sources where information on this gene can be found.

Genes related to the PGK1 gene, as well as additional information on variants and changes in this gene, can also be listed.

Overall, the PGK1 gene has several different names, reflecting its various roles and associations in different biological processes and genetic conditions.

Additional Information Resources

For additional information on the PGK1 gene and its related genetic disorders, the following resources may be helpful:

• PubMed: A comprehensive database of scientific articles on a wide range of topics. Search for “PGK1 gene” to access research papers on this gene and related conditions.
• Phosphoglycerate Kinase 1 deficiency (PGK1D): Information on this specific genetic condition, including symptoms, testing, and treatment options, can be found in the online database of the Genetic and Rare Diseases Information Center (GARD).
• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the PGK1 gene and its associated conditions.
• GeneTests: A publicly-funded medical genetics information resource that provides information on genetic testing, including available tests for the PGK1 gene.
• Registry of Genes and the Databases on Variants and Mutations: This resource provides information on different genetic databases that contain information on genetic changes and variants associated with the PGK1 gene.
• Phosphoglycerate Kinase: Explore various scientific articles on the functions and characteristics of phosphoglycerate kinase, the protein encoded by the PGK1 gene, on reputable scientific journals and databases.

These resources can provide additional information and support for individuals and families affected by PGK1 gene-related conditions, as well as healthcare professionals and researchers interested in studying this gene and its related disorders.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the diagnosis and management of genetic conditions. There are different types of tests that can be performed to identify specific genetic conditions related to the PGK1 gene.

The PGK1 gene, also known as phosphoglycerate kinase 1, is responsible for encoding an enzyme that plays a role in the glycolysis pathway. Deficiency or changes in this gene can lead to the development of various neurological and metabolic disorders.

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests that are available for a wide range of conditions. This registry provides a valuable resource of information for healthcare professionals, researchers, and individuals who are interested in genetic testing.

In the GTR, there are multiple tests listed for the PGK1 gene. These tests aim to identify variants or changes in the PGK1 gene that are associated with different diseases and conditions. The tests listed in the GTR include:

• PGK1 gene sequencing
• PGK1 gene deletion/duplication analysis
• PGK1 gene expression analysis

These tests can provide valuable information about the presence of genetic changes in the PGK1 gene that may contribute to the development of chronic neurological conditions or other related disorders.

The GTR also provides additional resources and articles related to the PGK1 gene and its associated conditions. These resources include scientific articles, PubMed names, OMIM names, and information from other genetic databases. This ensures that users of the GTR have access to the most up-to-date and comprehensive information regarding the PGK1 gene and its role in various health conditions.

Overall, the tests listed in the Genetic Testing Registry for the PGK1 gene offer important diagnostic tools for identifying genetic changes and variants that may contribute to the development of neurological and metabolic disorders. The GTR serves as a valuable resource for healthcare professionals and individuals seeking more information about genetic testing and its role in managing genetic conditions.

Scientific Articles on PubMed

Chronic conditions and known genetic changes in the PGK1 gene are listed in the scientific articles available on PubMed. PGK1 is a protein encoding gene and tests for its deficiency can provide additional information about different types of health conditions.

Phosphoglycerate kinase 1 (PGK1) is involved in the reaction that generates ATP in the glycolysis pathway. Mutations in the PGK1 gene can lead to neurological disorders and other related conditions.

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic conditions. The PGK1 gene and its associated diseases are listed in the OMIM database.

For more information on the PGK1 gene and related conditions, the following resources can be consulted:

• PubMed: PubMed is a database of scientific articles. Searching for “PGK1 gene” on PubMed can provide a wealth of information on the topic.
• OMIM: The Online Mendelian Inheritance in Man database provides detailed information on the PGK1 gene, its associated diseases, and relevant research articles.
• Genetic Testing Registry: The Genetic Testing Registry lists available tests for genetic conditions, including those related to the PGK1 gene.
• Phosphoglycerate kinase deficiency: This condition, caused by variations in the PGK1 gene, is discussed in scientific articles and can be further explored through PubMed.
• Related Articles: PubMed provides a feature to explore related articles, which can be useful for finding more information on PGK1 gene and its implications.

In conclusion, there are scientific articles available on PubMed that discuss the PGK1 gene, its associated conditions, and the genetic changes that can lead to health issues. Additional resources such as OMIM, the Genetic Testing Registry, and related articles can provide further information on this topic.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on various health conditions and their associated genes. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding genetic disorders.

The OMIM database contains a vast collection of information about different genetic conditions, including neurologic, metabolic, and chronic diseases. Each condition is listed with its corresponding gene(s) and related information, such as the protein encoded by the gene and the biochemical reaction it is involved in.

For each gene and condition listed in the catalog, OMIM provides detailed information about the genetic variant(s) associated with the condition. This includes information about the specific changes in the gene sequence that are known to cause the disease, as well as additional references to scientific articles and resources for further reading.

OMIM also serves as a registry for genetic testing laboratories, providing a comprehensive listing of laboratories that offer testing for different genetic conditions. This helps individuals and healthcare providers find the appropriate tests and resources for diagnosing and managing genetic disorders.

The OMIM database is constantly updated with new information, ensuring that users have access to the latest research and discoveries in the field of genetics. It is a valuable tool for researchers and clinicians alike, providing a wealth of information on a wide range of genetic diseases and their associated genes.

Gene and Variant Databases

There are several databases that provide valuable information about the PGK1 gene and its variants. These databases compile data from different sources and serve as important resources for researchers, healthcare professionals, and individuals seeking information about this gene and related conditions.

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information about the PGK1 gene, including its genetic names, the types of conditions associated with changes in this gene, and references to scientific articles and other resources.
• GeneCards: GeneCards is a searchable database that provides information about genes, including the PGK1 gene. It includes data on gene function, gene expression, related diseases, and genetic variants. GeneCards serves as a valuable resource for understanding the functions and roles of different genes, including PGK1.
• PubMed: PubMed is a database of biomedical literature that includes articles related to the PGK1 gene and its variants. By searching PubMed, researchers can access scientific publications on topics such as the role of the PGK1 gene in specific diseases, new discoveries regarding its functions, and testing methods for genetic variants.
• Phosphoglycerate Kinase (PGK) Deficiency Registry: The PGK Deficiency Registry is a database that collects information about individuals with PGK1 deficiency, a condition caused by mutations in the PGK1 gene. The registry aims to gather data to better understand the condition, facilitate communication between healthcare providers and individuals affected by PGK1 deficiency, and contribute to the development of future research and clinical trials.

In addition to these databases, there are other resources that provide useful information about the PGK1 gene and its variants. These include specialized databases for specific conditions associated with PGK1, genetic testing providers who offer testing for PGK1 variants, and health websites that provide general information about neurological conditions or genetic disorders.

By utilizing these gene and variant databases and related resources, researchers, healthcare professionals, and individuals can access valuable information about the PGK1 gene and its variants, aiding in the understanding, diagnosis, and management of associated conditions.

References

The following articles have been referenced for information on the PGK1 gene:

• Gene: PGK1

• Articles: Several scientific articles discuss the PGK1 gene, its protein product, and the genetic changes that can occur in this gene.

• Genes: The PGK1 gene is related to other genes involved in the phosphoglycerate kinase reaction.

• Protein: The protein produced by the PGK1 gene is known as phosphoglycerate kinase.

• Databases: Additional information on the PGK1 gene can be found in genetic databases and resources such as OMIM and the Genetic Testing Registry.

• Testing: Different genetic tests can be done to detect changes in the PGK1 gene, which may be associated with certain neurological conditions or phosphoglycerate kinase deficiency.

• Condition Catalog: The OMIM database and other genetic resources provide a catalog of conditions known to be related to changes in the PGK1 gene.

• Phosphoglycerate Kinase Deficiency: Changes in the PGK1 gene can lead to a condition known as phosphoglycerate kinase deficiency, which is characterized by chronic neurological symptoms.

• Related Conditions: In addition to phosphoglycerate kinase deficiency, changes in the PGK1 gene can be associated with other related conditions.