The AASS gene, also known as alpha-aminoadipate semialdehyde synthase gene, is related to the reductase variant of the lysine-ketoglutarate reductase/saccharopinuria-synthesizing enzyme. This gene is responsible for creating the alpha-aminoadipate semialdehyde (AASA) which is then converted into alpha-aminoadipate acid by the alpha-aminoadipate semialdehyde dehydrogenase enzyme.

Information about the AASS gene can be found in various genetic databases and resources. This gene has been associated with several genetic conditions, including hyperlysinemia and saccharopinuria. Changes in the AASS gene can cause these conditions, and additional testing may be required to confirm a diagnosis.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genetic conditions and the genes associated with them. The AASS gene is listed on OMIM, and there are several articles and references available for further information.

In this article, we will explore the AASS gene, its role in various diseases, and the tests available for diagnosing mutations in this gene. We will also discuss resources and additional information that can be helpful for individuals and families affected by conditions related to the AASS gene.

Genetic changes in the AASS gene can lead to various health conditions. The AASS gene provides instructions for making a protein called alpha-aminoadipate-alpha-ketoglutarate aminotransferase, which is involved in the lysine-ketoglutarate reductase/saccharopine dehydrogenase pathway.

Saccharopinuria

Saccharopinuria is a rare genetic disorder that is caused by changes in the AASS gene. It is characterized by the accumulation of a substance called saccharopine in the body. This condition can lead to intellectual disability, muscle weakness, and other neurological symptoms.

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Hyperlysinemia

Hyperlysinemia is another genetic disorder caused by changes in the AASS gene. It is characterized by high levels of the amino acid lysine in the blood and urine. This condition can cause developmental delay, intellectual disability, and other health problems.

Bifunctional Enzyme Deficiency

Bifunctional enzyme deficiency is a condition caused by changes in both the AASS gene and another gene called TAT. It disrupts the lysine-ketoglutarate reductase/saccharopine dehydrogenase pathway and can lead to developmental delay, intellectual disability, seizures, and other health issues.

Other Health Conditions

In addition to saccharopinuria, hyperlysinemia, and bifunctional enzyme deficiency, genetic changes in the AASS gene have been associated with various other health conditions. These include intellectual disability, epilepsy, muscle weakness, and movement disorders.

To learn more about the health conditions related to genetic changes in the AASS gene, you can refer to scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide detailed information, references, and variant names for the gene and associated diseases. Genetic testing and other tests can also be done to confirm the presence of genetic changes in the AASS gene and to assess the health implications.

Overall, understanding the genetic changes in the AASS gene and their effects on health conditions is crucial for diagnosis, management, and treatment of individuals with these disorders. Genetic testing and the information available in scientific databases and registries play a key role in this process.

See also  PHF8 gene

Hyperlysinemia

Hyperlysinemia is a genetic condition that causes elevated levels of lysine in the body. It is a rare disorder and is often diagnosed through genetic testing. People with hyperlysinemia have a mutation in the AASS gene, which is responsible for producing alpha-aminoadipate semialdehyde synthase.

Elevated levels of lysine in the body can lead to a condition called saccharopinuria, where lysine is converted into saccharopine. This can cause a range of symptoms, including developmental delays, intellectual disability, and seizures.

Genetic testing for hyperlysinemia can be done to identify mutations in the AASS gene. This can provide important information for diagnosing the condition and determining the genetic cause. Testing may also be done to rule out other genetic conditions related to lysine metabolism.

Additional information and resources for hyperlysinemia can be found in various genetic databases and health registries. These resources can provide information on the causes, symptoms, and treatment options for hyperlysinemia, as well as information on genetic testing.

Scientific articles, references, and additional information on hyperlysinemia can be found in databases such as OMIM and PubMed. These resources can provide further understanding of the condition and its genetic basis.

In summary, hyperlysinemia is a rare genetic condition caused by mutations in the AASS gene. Elevated lysine levels in the body can lead to saccharopinuria and a range of symptoms. Genetic testing and resources are available to provide further information and support for individuals and families affected by hyperlysinemia.

Other Names for This Gene

The AASS gene is also known by the following names:

  • Lysine-Ketoglutarate Reductase/Saccharopinuria
  • Alpha-Aminoadipate from Other Lysine-Ketoglutarate Synthase Bifunctional Gene Related Conditions
  • AASS
  • Lysine-Ketoglutarate Reductase
  • Lysine-Ketoglutarate Synthase
  • Saccharopinuria
  • Hyperlysinemia

For more information on this gene, you can refer to the following resources:

  1. The OMIM database
  2. PubMed articles and genetic testing resources
  3. Genetic testing laboratories
  4. Additional references and resources related to genetic diseases
  5. The Genetic Testing Registry

Additional Information Resources

  • Articles: Listed below are some articles related to the AASS gene:
    • Alpha-aminoadipate synthase
    • Testing the AASS gene
  • Tests: The following tests can be conducted to assess mutations in the AASS gene:
    • Alpha-aminoadipate synthase testing
  • Catalog and registry: The information about AASS gene can be found in the catalog and registry.
  • Hyperlysinemia: This condition is related to the AASS gene, resulting in lysine-ketoglutarate reductase deficiency.
  • Saccharopinuria: Another condition associated with the AASS gene, causing changes in lysine metabolism.
  • Related information: For more information about AASS gene and the conditions/diseases it causes, please refer to the following resources:
    • OMIM (Online Mendelian Inheritance in Man)
    • Scientific articles available on PubMed
    • Databases with information on other genetic changes
    • Genetic testing resources
  • Variant names: The AASS gene may also be referred to by different variant names.
  • Causes: Learn more about the causes and mechanisms behind the AASS gene-related conditions and diseases.
  • Genes: Explore information about other genes that are associated with lysine metabolism and related conditions.
  • Additional tests: In addition to the AASS gene, other genetic tests may be available to assess related conditions and diseases.
  • References: Consult the references section for more scientific articles and resources related to the AASS gene and its associated conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database of genetic tests and their associated information. It is a valuable resource for individuals and healthcare professionals seeking scientific and medically relevant information about genetic testing. The GTR provides comprehensive information on genetic tests for various conditions, including hyperlysinemia and saccharopinuria, which are associated with changes in the AASS gene.

See also  WNK4 gene

Genetic tests listed in the GTR can help diagnose these conditions and provide information about their causes. These tests use different methods to detect genetic variants or changes in the AASS gene, such as reductase or lysine-ketoglutarate synthase. They can also identify other genes or variants that may be related to these diseases.

The GTR catalog includes detailed information about each test, including the names of the laboratories that offer the test, the methods used, and the associated diseases or conditions. In addition, the GTR provides references to scientific articles, OMIM entries, and other resources that contain further information about the AASS gene and related conditions.

Healthcare professionals and individuals can use the GTR to search for specific tests, learn about the available genetic testing options, and find additional information about hyperlysinemia, saccharopinuria, and related conditions. The GTR serves as a centralized and reliable source of information, helping to ensure that individuals receive accurate and up-to-date information about genetic testing for diseases related to the AASS gene.

Test Name Associated Conditions Laboratory Offering the Test
Alpha-aminoadipate reductase test Hyperlysinemia Lab A
Lysine-ketoglutarate synthase test Hyperlysinemia Lab B
Bifunctional enzyme test Hyperlysinemia, Saccharopinuria Lab C

These are just a few examples of the tests listed in the GTR. The database contains many more tests for a wide range of genetic conditions. The GTR is continuously updated with new tests, scientific articles, and other valuable resources, ensuring that healthcare professionals and individuals have access to the latest information about genetic testing for the AASS gene and related conditions.

Scientific Articles on PubMed

The AASS gene plays a significant role in various genetic diseases related to lysine-ketoglutarate reductase/synthase bifunctional enzyme deficiency, such as saccharopinuria and hyperlysinemia. Testing for genetic variants in the AASS gene can provide valuable information on the causes and changes in health conditions.

PubMed is a reliable resource for finding scientific articles and references related to the AASS gene and its genetic testing. Listed below are some of the articles and resources available on PubMed:

  • Article 1: “Genetic testing for AASS gene variants in hyperlysinemia”
  • Article 2: “Molecular characterization of AASS gene mutations in saccharopinuria”
  • Article 3: “Role of AASS gene in lysine metabolism and related diseases”

These articles provide in-depth information on the AASS gene, its genetic variants, and their association with lysine-ketoglutarate reductase/synthase deficiency. They highlight the importance of genetic testing in diagnosing and managing these genetic conditions.

In addition to PubMed, other databases and resources like OMIM (Online Mendelian Inheritance in Man) and the genetic variant registry have valuable information on the AASS gene and related genetic conditions. These resources can be useful for researchers and healthcare professionals seeking to understand the genetic causes and testing options for lysine-related diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is one of the most comprehensive and authoritative databases for genetic information. It is a registry of genes, genetic variants, and related diseases, offering a wealth of information for researchers, healthcare professionals, and individuals interested in genetic health.

OMIM provides a catalog of genes and diseases, listing their names, associated conditions, and genetic changes. It includes information on genetic tests available for certain conditions, as well as references to scientific articles and other resources for further reading. The database is regularly updated with new information, ensuring the most up-to-date content.

See also  NCSTN gene

One example of a gene listed in OMIM is the AASS gene. This gene is associated with the conditions bifunctional alpha-aminoadipate semialdehyde synthase deficiency, saccharopinuria, and hyperlysinemia. OMIM provides detailed information on the genetic changes that can cause these conditions and the symptoms associated with them.

OMIM also offers a list of genetic tests that can be performed to diagnose these conditions. These tests can help identify the specific genetic variant that is causing the disease, providing valuable information for treatment and management decisions.

In addition to the catalog of genes and diseases, OMIM provides a wealth of additional resources. These include information on genes related to the AASS gene, such as lysine-ketoglutarate reductase and other genes involved in lysine metabolism. These resources can help researchers and healthcare professionals gain a better understanding of the genetic basis of these conditions.

The database also includes references to scientific articles on the topic, allowing users to explore the scientific literature in more detail. PubMed, a widely used database for scientific articles, is often referenced in OMIM, providing easy access to relevant research.

In summary, OMIM is a valuable resource for anyone interested in genetic health. Its catalog of genes and diseases, along with the additional resources and references available, make it an essential tool for genetic testing, research, and education.

Gene and Variant Databases

Gene and variant databases provide a comprehensive catalog of genetic information related to specific genes and their variants. These databases serve as valuable resources for scientists, healthcare professionals, and individuals seeking information on genetic conditions and testing.

One such database is the AASS gene database, which focuses on the bifunctional enzyme alpha-aminoadipate synthase. This enzyme is involved in the lysine-ketoglutarate reductase and saccharopinuria pathways, and changes in the AASS gene can lead to hyperlysinemia and other genetic conditions.

The AASS gene database provides information on the gene, its variants, and associated diseases. It includes references to scientific articles, PubMed listings, and additional resources for further reading. The database also serves as a registry for genetic testing and provides information on available tests for this gene.

Other gene and variant databases exist for a wide range of genes and genetic conditions. These databases list genes, variants, and associated diseases, and provide references to scientific articles and other resources. They are valuable tools for researchers, healthcare providers, and individuals seeking information on specific genetic conditions.

Examples of Gene and Variant Databases
Database Name Genes Covered Genetic Conditions Listed
GeneDB Various Various
OMIM Various Various
HGMD Various Various

These gene and variant databases are essential for accessing reliable and up-to-date genetic information. They are valuable resources for researchers, healthcare professionals, and individuals interested in understanding the genetic causes of diseases and the available testing options.

References

  • saccharopinuria
  • additional information on AASS gene and related conditions can be found on the Genetics Home Reference website
  • lysine-ketoglutarate reductase and saccharopine dehydrogenase variants
  • changes in the AASS gene listed in genetic databases such as OMIM and PubMed
  • genetic testing for AASS gene variants
  • alpha-aminoadipate synthase deficiency and its causes
  • hyperlysinemia and its causes

For more scientific articles and information on the AASS gene, visit:

  • PubMed – a database of scientific articles
  • OMIM – a catalog of genetic conditions and genes
  • Genetics Home Reference – a resource for health information

Genetic testing for AASS gene variants can be done through:

  • Genetic testing laboratories
  • Genetic testing registries