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The AHCY gene, also known as the S-adenosylhomocysteine hydrolase gene, provides instructions for making an enzyme called S-adenosylhomocysteine hydrolase. This enzyme plays a crucial role in a process called methylation, which is involved in the regulation of gene activity. The AHCY gene is located on chromosome 20 and contains instructions for making a protein that is involved in the breakdown of S-adenosylhomocysteine.

Changes in the AHCY gene can lead to various genetic conditions, including hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (hypermethioninemia, AHCY-related). This condition is characterized by elevated levels of methionine in the blood due to a deficiency of the S-adenosylhomocysteine hydrolase enzyme. Symptoms may include developmental delay, intellectual disability, and liver problems.

For additional information on the AHCY gene, genetic testing, and related diseases, you can refer to various resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed articles, and scientific literature. These databases provide comprehensive information on the gene, genetic variants, and associated diseases.

In addition to the AHCY gene, there are many other genes involved in the regulation of methylation and related genetic conditions. The AHCY gene is just one piece of the puzzle, and understanding its role in the context of other genes and genetic pathways is essential for a comprehensive understanding of these conditions. The Genetic Testing Registry and other genetic databases also list information on testing options and available resources.

References:

  • Sarnavka V, et al. “Novel variant in AHCY: expanding the phenotype of hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.” JIMD Rep. 2019;46(1):54-59. doi: 10.1002/jmd2.12073. Epub 2018 Nov 22.
  • Rados R, et al. “Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency: Clinical features in six patients with delayed speech development and a review of the literature.” Eur J Med Genet. 2016 Sep;59(9):487-98. doi: 10.1016/j.ejmg.2016.06.001. Epub 2016 Jun 10.

Genetic changes can have a significant impact on an individual’s health and can be linked to various health conditions. Scientific research and advances in genetic testing have allowed for a better understanding of these conditions and their underlying genetic causes.

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One gene that has been identified as being associated with certain health conditions is the AHCY gene. This gene is responsible for producing an enzyme called S-adenosylhomocysteine hydrolase, which plays a role in methylation processes in the body. Methylation is a chemical modification of DNA that can affect gene expression and other important cellular functions.

Changes in the AHCY gene can lead to health conditions such as hypermethioninemia, which is characterized by elevated levels of methionine in the blood. Hypermethioninemia can have various symptoms and can be detected through genetic testing.

Hypermethioninemia

Hypermethioninemia is a genetic condition characterized by an increased level of methionine in the blood. Methionine is an essential amino acid that plays a role in various biochemical reactions in the body.

See also  Cockayne syndrome

References to this condition can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the genetic changes in the AHCY gene that can lead to hypermethioninemia.

This condition can be diagnosed through genetic testing, which analyzes the AHCY gene for any changes. Additional tests may be conducted to assess the level of methylation in the body.

There are various articles and resources available on hypermethioninemia, including the Rados catalog of genetic diseases and the Sarnavka registry. These resources provide information on the symptoms, treatment, and management of hypermethioninemia.

Other genes and compounds listed in these resources may be related to hypermethioninemia. Variant scientific names may also be used to refer to this condition.

Other Names for This Gene

The AHCY gene is also known by several other names:

  • Methionine adenosyltransferase 2, alpha (MAT2A)-Methyltransferase (protein)
  • AHCY gene coding for Adenosylhomocysteinase (gene symbol)
  • Hypermethioninemia due to adenosylhomocysteinase deficiency (condition)
  • AHCY hypermethioninemia (variant)
  • AHCY protein

These alternative names are used in different contexts and by different resources. Some of them refer to the gene itself, while others describe the protein or certain conditions related to changes in this gene.

For further information about the AHCY gene, methylation testing, related health conditions, and additional scientific articles and resources, you can refer to databases such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide comprehensive information on the AHCY gene and its various names, as well as related diseases and testing methodologies.

Additional Information Resources

  • Conditions: AHCY gene is associated with hypermethioninemia, a condition characterized by an elevated level of methionine in the blood. This gene is also linked to other diseases and conditions.
  • PubMed: PubMed is a database of scientific articles providing information on genetic changes, variant names, and related research on the AHCY gene.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders, including hypermethioninemia, associated with the AHCY gene.
  • Genetic Testing: For testing and additional information on the AHCY gene and hypermethioninemia, you can refer to reputable genetic testing companies and laboratories.
  • Epub: Epub is a platform that hosts scientific articles and publications related to the AHCY gene, hypermethioninemia, and other genetic disorders.
  • Registry: Genetic registries keep track of the genetic changes, associated conditions, and variant names of the AHCY gene. These registries provide valuable resources and information.
  • Sarnavka: Sarnavka is a database that provides information on mutations and variants in genes associated with hypermethioninemia and other related conditions.

These resources listed above can be helpful in finding additional information, scientific articles, and references related to the AHCY gene, hypermethioninemia, and genetic testing.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a repository that provides a centralized location for information on genetic tests. It contains the names and information on genetic tests, including those related to the AHCY gene.

Genetic testing is a process that identifies changes in genes, chromosomes, or proteins. It can be used to diagnose and predict the risk of genetic conditions. For the AHCY gene, genetic testing can be done to determine if there are any changes or variants in this gene that may be associated with certain medical conditions.

In the GTR, you can find various resources related to genetic testing for the AHCY gene. These resources include names of the tests, information on the tests, and references to scientific articles and databases. You can also find information on other conditions that may be related to hypermethioninemia, a genetic condition associated with the AHCY gene.

See also  Aicardi syndrome

When searching for genetic tests related to the AHCY gene in the GTR, you may come across additional information on related genes, diseases, and compounds. This information can be helpful in understanding the broader context and implications of genetic testing for the AHCY gene.

Some of the resources listed in the GTR include PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Catalog. These resources provide information on various aspects of genetic testing, such as the genetic variants being tested, the diseases associated with these variants, and the methods used for testing.

Genetic testing for the AHCY gene can provide valuable information about an individual’s health and help in the diagnosis and management of related conditions. By accessing the GTR and utilizing the resources available, healthcare providers and individuals can stay up-to-date on the latest developments in genetic testing for the AHCY gene.

Scientific Articles on PubMed

The AHCY gene, also known as the “sarnavka catalog gene,” is associated with hypermethioninemia. This genetic condition is listed in various databases and resources, such as OMIM (Online Mendelian Inheritance in Man), which provides information on genetic disorders and related genes.

There have been several articles published on PubMed relating to the AHCY gene and hypermethioninemia. These scientific articles discuss various aspects of the gene, including its function, changes in its expression, and its involvement in different diseases. Some of the articles also explore potential treatments and diagnostic tests for hypermethioninemia.

In addition to hypermethioninemia, the AHCY gene has been linked to other conditions and diseases. These include Rados disease and certain changes in methylation patterns. Scientific articles on PubMed provide valuable information on the role of the AHCY gene in these conditions and highlight potential therapeutic targets.

Some of the articles listed on PubMed also reference other genes and compounds that interact with the AHCY gene. These interactions are important in understanding the complex mechanisms underlying hypermethioninemia and related diseases.

Researchers and healthcare professionals can access these scientific articles on PubMed to gain additional information and insights into the AHCY gene and its implications for health. The articles serve as valuable resources for genetic testing, disease diagnosis, and treatment strategies.

This information on PubMed can be used by healthcare professionals to stay updated on the latest research findings and to guide clinical decision-making. The scientific articles provide a comprehensive overview of the AHCY gene and its role in hypermethioninemia and related conditions.

By utilizing the information available on PubMed, researchers can contribute to our understanding of the AHCY gene and its impact on human health. The scientific articles provide a foundation for further research and contribute to the growing body of knowledge on genetic disorders and their underlying mechanisms.

Overall, the scientific articles on PubMed provide a wealth of information on the AHCY gene and its significance in hypermethioninemia and related conditions. Researchers, healthcare professionals, and individuals interested in genetic testing and diseases can benefit from the valuable insights provided by these articles.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive registry that contains information on genetic conditions and the associated genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that provides scientific information on various genetic diseases.

See also  Cystic fibrosis

The catalog lists genes that are associated with specific diseases and conditions. It also includes information on genetic changes, such as mutations and methylation, that are linked to these diseases. This registry serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

The information in the catalog is sourced from various scientific databases, articles, and other reputable sources. OMIM provides references and hyperlinks to these resources, allowing users to access additional information on specific genes and diseases.

For example, a search for the AHCY gene in the catalog will provide information on its association with hypermethioninemia, a condition characterized by high levels of methionine in the blood. The catalog will list relevant scientific references, including articles from PubMed, that discuss the link between the AHCY gene and hypermethioninemia.

In addition to genetic information, the catalog also provides information on related compounds and testing resources. This includes names of tests that can be used to diagnose genetic conditions, as well as laboratories that offer genetic testing services.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone seeking information on genetic conditions and associated genes. It provides a comprehensive and reliable source of information on the genetic basis of various health conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide comprehensive information about genetic compounds, their changes, and associated genetic conditions. These databases serve as a catalog of genetic information, making it easier to access and search for relevant data.

One of the well-known gene databases is the Online Mendelian Inheritance in Man (OMIM). OMIM provides up-to-date information on genes, genetic conditions, and related articles from scientific literature. It offers a comprehensive list of genes, their names, genetic changes, and associated diseases.

Another important gene database is the National Center for Biotechnology Information (NCBI) Gene database. It provides detailed information on genes, including their genomic coordinates, gene structure, protein products, and known variants. This resource also links to other databases, such as PubMed, for additional information.

Variant databases, on the other hand, focus on capturing and documenting genetic changes and their impact on health. These databases list known variants, including single nucleotide variations, insertions, deletions, and more. They often provide information on the associated condition, potential consequences, and available testing options.

One example of a variant database is the Leiden Open Variation Database (LOVD). LOVD hosts publicly available collections of genetic variants, allowing researchers, clinicians, and patients to access and share information on genetic changes associated with specific conditions. It provides a user-friendly interface and supports community-based updates.

These gene and variant databases are critical for researchers, clinicians, and genetic counselors involved in diagnosing and managing genetic conditions. They provide a centralized and reliable source of information for genetic testing, helping to ensure accurate diagnoses and appropriate management decisions.

In summary, gene and variant databases play a crucial role in organizing and disseminating genetic information. They provide essential resources for researchers, healthcare professionals, and patients, aiding in the understanding and management of genetic conditions and facilitating genetic testing.

References

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