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The ADSL gene, which encodes adenylosuccinate lyase, is responsible for a deficiency in the enzyme adenylosuccinate lyase. This gene is associated with various genetic diseases and conditions, including adenylosuccinate lyase deficiency. Mutations and changes in the ADSL gene can affect the production and function of adenylosuccinate lyase, leading to delays in purine monophosphate metabolism and additional health problems.

Information about the ADSL gene can be found in various resources and databases, such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide references to articles and other information related to the ADSL gene, its variants, and associated genetic diseases. Testing for mutations in the ADSL gene can be useful in diagnosing adenylosuccinate lyase deficiency and related conditions.

In addition to the ADSL gene, other genes and genetic factors may also play a role in the development of adenylosuccinate lyase deficiency and related disorders. Further research and studies are ongoing to better understand the complex genetic basis of these conditions and to develop effective treatments and therapies.

SAMP, which stands for Specified ADAM (adenylosuccinate lyase Deficiency Accession Manager), is a catalog listed on OMIM that provides comprehensive information on the ADSL gene, its variants, and associated genetic diseases. This resource allows researchers and healthcare professionals to access the most up-to-date information and references on adenylosuccinate lyase deficiency.

In conclusion, the ADSL gene and its variants play a crucial role in the development of adenylosuccinate lyase deficiency and related conditions. Testing for mutations in this gene can provide valuable information for diagnosis and treatment. Researchers and healthcare professionals can access a wealth of information and resources through databases and registries to further understand and address the genetic basis of these disorders.

Genetic changes in the ADSL gene can lead to various health conditions. The ADSL gene provides instructions for making the enzyme adenylosuccinate lyase. This enzyme is involved in the breakdown and production of purine nucleotides, which are building blocks of DNA and RNA.

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Changes in the ADSL gene can result in a deficiency or dysfunction of adenylosuccinate lyase, leading to a condition called adenylosuccinate lyase deficiency (ADSLD). ADSLD is a rare genetic disorder that affects the nervous system and causes intellectual disability, developmental delay, and seizures.

When the ADSL gene is altered, it can affect the production and function of adenylosuccinate lyase. This can lead to abnormalities in purine metabolism, causing a buildup of toxic substances and a lack of essential purine molecules. These disruptions in purine metabolism can contribute to the development of various health conditions.

To identify genetic changes in the ADSL gene and diagnose related health conditions, several tests can be conducted. These include genetic testing, enzyme testing, and metabolic testing. Genetic testing involves analyzing the ADSL gene for specific variants or changes that may be related to health conditions.

Enzyme testing measures the activity and function of adenylosuccinate lyase to assess its deficiency or dysfunction. Metabolic testing evaluates the levels of metabolites and substances related to purine metabolism to detect abnormalities.

See also  SCN4A gene

Scientific resources and databases such as OMIM, PubMed, and the ADSL gene variant catalog provide additional information on the health conditions related to genetic changes in the ADSL gene. These resources contain articles, references, and registries of diseases associated with ADSLD and other genetic variants.

The ADSL gene and its related health conditions have been extensively studied and documented in scientific literature. By exploring these resources, health professionals can gain a better understanding of the effects, symptoms, and management of ADSLD and other conditions related to changes in the ADSL gene.

In conclusion, genetic changes in the ADSL gene can lead to various health conditions, particularly adenylosuccinate lyase deficiency. Proper testing, resources, and scientific literature provide crucial information for diagnosing and managing these conditions. Further research and genetic advancements continue to expand our knowledge and understanding of the ADSL gene and its implications on human health.

Adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency (ADSL deficiency) is a genetic condition caused by changes (variants) in the ADSL gene. It affects the production of adenylosuccinate lyase, an enzyme involved in purine metabolism. This deficiency can lead to a delay in development and a range of neurological symptoms.

ADSL deficiency is included in the catalog of genetic diseases and related conditions compiled by the National Institutes of Health (NIH). The condition affects the ADSL gene, which provides instructions for making the adenylosuccinate lyase enzyme. Changes in this gene can impair the function of the enzyme, leading to a buildup of adenylosuccinate and other related compounds in the body.

Testing for ADSL deficiency can be done through genetic testing, which looks for changes in the ADSL gene. Additional tests, such as metabolic testing and imaging studies, may also be used to help diagnose and manage the condition.

Information about ADSL deficiency can be found in scientific articles and databases, such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide references to articles and information on the condition, including symptoms, treatment options, and research updates.

References:

Other Names for This Gene

  • ADSL gene
  • ADSL1 gene
  • ADSS gene
  • CRLF1 gene
  • ADSL1A
  • ADSL1B
  • IMP cyclohydrolase
  • adsl1
  • IMP synthase
  • cyclase

In addition to the above names, this gene is also referred to by its related variant names, such as ADSL deficiency gene, adenylosuccinate lyase gene, and purine nucleotide cycle disorder gene.

Other resources, such as the OMIM database, list additional names for this gene, including ADSL1, ADSL1A, ADSL1B, and CRLF1. These names are used in scientific articles, genetic testing, and health databases to provide information on the ADSL gene and its role in various genetic conditions and diseases.

References to the ADSL gene can also be found in PubMed articles, where it is mentioned in relation to changes or mutations in the gene that affect purine metabolism and lead to ADSL deficiency. The ADSL gene is part of a larger group of genes related to the purine nucleotide cycle and is important for the proper functioning of this metabolic pathway.

In summary, the ADSL gene, also known as the adenylosuccinate lyase gene, has various names and is associated with ADSL deficiency and related genetic conditions. Its role in purine metabolism and its implications for health and disease make it an important gene to study and understand.

Additional Information Resources

For additional information on ADSL gene, related health conditions, and genetic testing, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed scientific information on genes, diseases, and genetic variants. The OMIM entry for ADSL gene can be found at https://www.omim.org/entry/103050.
  • PubMed: PubMed is a database of scientific articles and studies. Searching for “ADSL gene” or related keywords can provide you with a list of articles on ADSL gene and its associated conditions.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a database that provides information on genetic tests for various conditions, including ADSL gene deficiency. You can find more information about genetic testing for ADSL gene deficiency at https://www.ncbi.nlm.nih.gov/gtr/tests/5279.
See also  KRAS gene

These resources can provide you with further information on ADSL gene, related diseases, genetic changes, testing options, and more.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientific and comprehensive catalog of genetic tests. It provides genetic and test information for a variety of genetic conditions. In the context of the ADSL gene, the GTR provides the following tests:

Tests for Adenylosuccinate Lyase Deficiency

  • ADSL Gene Sequencing
  • ADSL Gene Deletion/Duplication Analysis
  • ADSL Gene Expression Analysis

These tests detect changes in the ADSL gene that are known to cause adenylosuccinate lyase deficiency, a genetic disorder related to purine metabolism. Adenylosuccinate lyase is an enzyme involved in the production and breakdown of purine monophosphate, an important component of DNA and RNA.

Additional Resources

In addition to the tests listed in the GTR, there are other genetic databases and resources that provide further information on the ADSL gene and related conditions:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genetic disorders and their associated genes.
  • PubMed: A database of scientific articles that include research on the ADSL gene, its variants, and related conditions.
  • Samp: A database of genetic changes and their impact on health.

These resources can be valuable for researchers, healthcare professionals, and individuals seeking additional information on the ADSL gene and its role in genetic diseases.

Scientific Articles on PubMed

ADSL gene, also known as adenylosuccinate lyase gene, is associated with a deficiency in adenylosuccinate lyase. This deficiency can affect purine metabolism and lead to various health conditions.

When testing for ADSL gene variants, it is important to have access to reliable resources and genetic testing facilities. These resources can provide information on the gene, its variants, and the impact they can have on health.

Catalog of Genes and Diseases from OMIM

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases.
  • OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases and conditions.
  • OMIM provides information on the genetic changes that affect the Adenylosuccinate lyase (ADSL) gene.

ADSL Gene:

  • The ADSL gene is involved in the production of adenylosuccinate lyase, an enzyme that plays a crucial role in the purine metabolism pathway.
  • Deficiency of this enzyme can lead to a condition called adenylosuccinate lyase deficiency (ADSLD).
  • ADSLD is a rare genetic disorder characterized by developmental delay, intellectual disability, and other neurological symptoms.

OMIM Resources for ADSL Gene:

  • OMIM provides a detailed description of the ADSL gene and its associated genetic changes.
  • OMIM also includes references to scientific articles, databases, and other resources that provide additional information on the ADSL gene.
  • OMIM lists the genetic tests available for detecting changes in the ADSL gene.
  • These tests can be used to diagnose adenylosuccinate lyase deficiency and other related genetic conditions.
  • OMIM provides information on the health registry and testing facilities that offer genetic testing for ADSL-related conditions.
  • OMIM also includes information on the use of genetic testing for carrier screening and prenatal diagnosis.

References:

  • OMIM provides references to scientific articles and publications related to the ADSL gene and adenylosuccinate lyase deficiency.
  • These references can be used to further explore the genetic basis of ADSL-related conditions.
  • OMIM also provides links to PubMed, a database of scientific articles, for additional information on ADSL and related topics.
See also  Char syndrome

Conclusion:

  • The catalog of genes and diseases from OMIM is a valuable resource for understanding the genetic basis of adenylosuccinate lyase deficiency and other related conditions.
  • OMIM provides comprehensive information on the ADSL gene, including genetic changes, associated diseases, testing resources, and scientific articles.
  • Researchers, healthcare professionals, and individuals can utilize OMIM to gain a deeper understanding of ADSL-related conditions and contribute to advancements in research and healthcare treatments.

Gene and Variant Databases

There are various gene and variant databases available that provide essential information on the ADSL gene and its related variants. These databases play a crucial role in understanding the genetic basis of diseases that affect this gene and its associated conditions.

One such database is the ADSL Gene Database, which catalogues information about the ADSL gene and its variants. This resource provides comprehensive information on the gene, including its function as an adenylosuccinate lyase and its involvement in the purine monophosphate pathway.

The ADSL Gene Database also lists the names of other genes related to ADSL and provides references to scientific articles and publications on this topic. Additionally, it offers information on genetic testing for ADSL deficiency and lists resources for further reading and research.

Another important database is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of human genes and genetic conditions. OMIM provides detailed information on the ADSL gene, its variants, and associated diseases. It also includes references to scientific articles and genetic testing information.

Furthermore, PubMed, the National Library of Medicine’s database of scientific articles, is an excellent resource for finding research articles about the ADSL gene and its variants. Searching for specific terms like “ADSL gene” or “adenylosuccinate lyase deficiency” can provide additional information on this topic.

Overall, these gene and variant databases are valuable tools for researchers, healthcare professionals, and individuals interested in ADSL gene-related conditions. They provide access to crucial information, references, and testing resources to further our understanding of genetic health.

References

  • ADSL Gene – Genetics Home Reference – NIH

    Information about the ADSL gene, including related conditions and genetic changes, is available in the Genetics Home Reference. This resource provides information on genetic testing, additional references, and resources for related diseases and genes.

    (source)

  • ADSL gene – OMIM Genetics

    The OMIM database provides detailed information on the ADSL gene, including information on related diseases, genetic changes, and variant names. This resource offers a comprehensive list of references and scientific articles related to ADSL gene deficiency.

    (source)

  • ADSL Gene – PubMed

    PubMed provides a collection of scientific articles on the ADSL gene and related conditions. This database can be useful for researchers and healthcare professionals seeking up-to-date information on ADSL gene disorders and the latest advancements in the field.

    (source)

  • Purine Nucleotide Cycle Disorders (ADSL deficiency) – National Organization for Rare Disorders (NORD)

    The National Organization for Rare Disorders (NORD) provides information on ADSL deficiency, including its symptoms, causes, and treatment options. This resource also offers a list of references for further reading and research on ADSL gene-related conditions.

    (source)

  • ADSL – Genetic and Rare Diseases Information Center (GARD)

    The Genetic and Rare Diseases Information Center (GARD) offers information on ADSL gene-related disorders for patients and their families. This resource provides an overview of the condition, available tests, and genetic counseling options.

    (source)

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