The ASNS gene, also known as asparagine synthetase, plays a crucial role in the production of asparagine, one of the 20 essential amino acids needed by the body. This gene encodes an enzyme that catalyzes the synthesis of asparagine from aspartate and glutamine. Asparagine is a building block for proteins and is particularly important for the growth and development of the central nervous system. Mutations in the ASNS gene can lead to a deficiency in asparagine synthetase, resulting in severe health conditions.

The ASNS gene is located on chromosome 7 and is part of a gene family called the aminoacyl-tRNA synthetases. These genes encode enzymes that are responsible for attaching specific amino acids to their corresponding tRNA molecules during protein synthesis. They are essential for the accurate translation of the genetic code from DNA to protein. Mutations in any of these genes can lead to a variety of diseases collectively called aminoacyl-tRNA synthetase deficiencies.

The ASNS gene has been identified as the cause of a condition called asparagine synthetase deficiency (ASD). This genetic disorder is characterized by a reduced ability to synthesize asparagine, resulting in elevated levels of ammonia in the blood and other tissues. This can lead to neurological problems, seizures, and developmental delay. ASD is a rare condition, and the number of reported cases is limited. The condition is listed in the Online Mendelian Inheritance in Man (OMIM) database, and further information can be found in scientific articles and genetic testing resources.

Genetic testing for mutations in the ASNS gene can be used to confirm a diagnosis of asparagine synthetase deficiency and to identify carriers of the mutation. Testing can be performed using various methods, including DNA sequencing and deletion/duplication analysis. This information can be crucial for genetic counseling and family planning.

References:

1. Ts11 -, Central for Development ,”ASNS gene – Genetics Home Reference – NIH”, Genetics Home Reference, 20 April 2022, http://ghr.nlm.nih.gov/gene/ASNS.

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2. “ASNS gene”, Gene – NCBI, National Center for Biotechnology Information, 4 February 2022, http://www.ncbi.nlm.nih.gov/gene/440.

3. “ASNS asparagine synthetase [ Homo sapiens (human) ]”, Gene – Protein – NCBI, National Center for Biotechnology Information, 8 March 2022, http://www.ncbi.nlm.nih.gov/gene/440#refseq-accessions.

Genetic changes in the ASNS gene can lead to various health conditions. ASNS, also known as asparagine synthetase, is a gene that provides instructions for making an enzyme called asparagine synthetase. This enzyme plays a crucial role in the production of asparagine, an amino acid that is involved in many biological processes.

Scientific research has identified genetic changes in the ASNS gene that are related to health conditions. These genetic changes can cause a deficiency in asparagine synthetase, resulting in a range of symptoms and medical problems.

One health condition related to ASNS gene changes is a severe neurological disorder called asparagine synthetase deficiency. This condition is characterized by low levels of asparagine and high levels of ammonia in the body. It can lead to developmental delays, intellectual disability, seizures, and other neurological problems.

Information about these genetic changes and associated health conditions can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic conditions, including those related to the ASNS gene. PubMed, a database of scientific articles, also contains research articles on ASNS gene changes and associated health conditions.

Genetic testing can help identify changes in the ASNS gene. Different genetic tests are available to detect these changes, including targeted sequencing and whole exome sequencing. These tests can provide valuable information for healthcare professionals and individuals who may be at risk for genetic conditions related to the ASNS gene.

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Additionally, there are organizations and registries that focus on specific genetic conditions. For example, the Registry for Research on TS13 and TS11 is dedicated to individuals with genetic changes in the ASNS gene and related health conditions. These resources can provide support, information, and additional references for individuals and families affected by ASNS gene changes.

In summary, genetic changes in the ASNS gene can result in a variety of health conditions, including asparagine synthetase deficiency. These conditions can have severe impacts on development, neurological function, and overall health. Genetic tests, databases, and resources can help in understanding and managing these conditions, providing valuable information and support to affected individuals and their families.

Asparagine synthetase deficiency

Asparagine synthetase deficiency (ASNS deficiency) is a severe genetic condition related to the ASNS gene. This gene is responsible for the production of an enzyme called asparagine synthetase, which plays a crucial role in the development and function of the central nervous system.

ASNS deficiency is a rare disease, and there are currently only a few documented cases in medical literature. The condition is characterized by a deficiency of the asparagine synthetase enzyme, which leads to a buildup of ammonia and other toxic substances in the body.

Patients with ASNS deficiency often have severe neurological symptoms, including developmental delay, intellectual disability, seizures, and abnormal brain structure. The severity of the symptoms can vary among individuals.

Diagnosis of ASNS deficiency can be made through genetic testing, which analyzes the ASNS gene for any changes or variants. Additional tests may be necessary to measure the levels of asparagine and other amino acids in the blood and urine.

Resources for ASNS deficiency can be found through various databases and registries, such as OMIM, Pubmed, and the Genetic Testing Registry. These resources provide information on the genetics of the condition, related articles, and references for further scientific research.

Healthcare professionals can use this information to guide diagnosis and management of patients with ASNS deficiency. The information can also be valuable for genetic counseling and providing support to affected individuals and their families.

Other Names for This Gene

The ASNS gene is also known by other names:

  • ASPARAGINE SYNTHETASE
  • ASPARTATE AMMONIA-LYASE (ASPARAGINE FORMING)
  • ASNSDEF
  • CITRULINEMIA II
  • COUPLED ASPARAGINE SYNTHESIS
  • DEFICIENCY OF ASPARAGINE SYNTHETASE
  • FLJ35024
  • GFRP
  • ODCP

The ASNS gene is associated with various genetic conditions and diseases, such as:

  • Central Nervous System Development and Function
  • Deficiency of Asparagine Synthetase
  • Severe Acute Respiratory Syndrome-Related Coronavirus 2 (SARS-CoV-2) Infection
  • Ammonia Detoxification
  • Ammonia Transport Across Cytoplasmic Membrane
  • Urea Cycle

Other genetic conditions and genes related to the ASNS gene include:

  • AS[table]>
  • TS11 (related to ASNS gene)

Additional information on the ASNS gene can be found in databases and resources such as:

  • OMIM (Online Mendelian Inheritance in Man)
  • PubMed (a database of scientific references)
  • Gene (a gene and variant catalog)
  • Human Gene Mutation Database (HGMD)

Testing for changes in the ASNS gene can be done through genetic testing and health tests.

Additional Information Resources

  • Genes and Diseases: This website provides detailed information on genes, gene variants, and their association with various diseases. You can find information about the ASNS gene and related genetic conditions.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database of human genes and genetic conditions. It contains detailed information on the ASNS gene, including its associated diseases, clinical features, and inheritance patterns.
  • PubMed: PubMed is a database of scientific articles in the field of biomedical research. You can find research papers related to the ASNS gene, its function, and its role in ammonia metabolism and central nervous system development.
  • Genetic Testing: If you suspect a genetic condition related to the ASNS gene, genetic testing can help provide a definitive diagnosis. Consult a genetic counselor or healthcare professional for more information on available tests and testing laboratories.
  • Registry of Genetic Diseases: The registry of genetic diseases provides a catalog of genetic conditions, including those related to the ASNS gene. You can find information on the prevalence, symptoms, and management options for these conditions.
  • Other Databases: There are several other scientific databases that contain information on the ASNS gene and related genetic conditions. Examples include GenBank, Ensembl, and ClinVar.
  • Health Websites: Health websites provide general information on genetic conditions, symptoms, and available treatments. They can be a good starting point for understanding severe diseases associated with the ASNS gene.
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Remember that genetic information and test results should be interpreted by a healthcare professional or genetic counselor. They can provide personalized guidance and help you understand the implications of genetic changes in the ASNS gene.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in diagnosing and managing various genetic diseases. The Genetic Testing Registry (GTR) is a comprehensive database that provides information on various genetic tests. In the context of the ASNS gene, the GTR lists several tests specifically related to severe asparagine synthetase deficiency, also called ASNS deficiency.

Severe asparagine synthetase deficiency is a genetic condition that affects the central nervous system. It is caused by changes (variants) in the ASNS gene, which encodes the enzyme responsible for synthesizing asparagine from ammonia and other amino acids. This deficiency can lead to a variety of health problems.

In the GTR, you can find the following tests related to ASNS gene:

  • ACMG Recommendations for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing: This test provides guidelines for reporting secondary findings from exome and genome sequencing, including variants in ASNS gene.
  • ASNS Gene Sequencing: This test involves sequencing the ASNS gene to identify any variant or mutation that may be associated with severe asparagine synthetase deficiency.
  • ASNS-Related Diseases: This test focuses on identifying variants in the ASNS gene that are associated with severe asparagine synthetase deficiency and other related diseases.
  • ASNS-Related Disorders: This test aims to detect variants in the ASNS gene and assess their clinical significance in the context of various related disorders.
  • ASNS Variant Analysis: This test involves analyzing specific variants in the ASNS gene to determine their impact on protein function and their association with severe asparagine synthetase deficiency.

It is important to note that the GTR provides additional information on these tests, including references to scientific articles, databases such as PubMed and OMIM, and other resources for further reading and development.

By consulting the GTR, healthcare professionals and individuals can access comprehensive information on the available genetic tests, their names, and the conditions they are designed to detect. This centralized resource serves as a valuable reference for the genetic testing community.

Scientific Articles on PubMed

When it comes to studying genes and genetic conditions, PubMed is one of the most valuable resources available. It catalogs a vast collection of scientific articles from various databases and provides a barrier-free access to valuable information.

One of the genes of interest is the ASNS gene. ASNS, or asparagine synthetase, is responsible for the development and synthesis of asparagine, one of the 20 amino acids needed for proper protein synthesis.

Several scientific articles related to ASNS deficiency and its association with severe central nervous system diseases have been published. These articles provide valuable insights into the genetic testing and health consequences of this genetic variant.

One of the resources listed on PubMed is the OMIM database, which provides additional information on genes, genetic conditions, and their related articles. OMIM is a trusted registry of human genes and genetic phenotypes and can be a valuable reference for researchers studying ASNS deficiency.

In addition to OMIM, other databases and tests are also available for genetic testing and variant analysis. These tests can help in the diagnosis and management of ASNS-related diseases and conditions.

For example, the Acid Synthetase Deficiency (TS11) test is specifically designed to identify mutations in the ASNS gene and can aid in the diagnosis of ASNS deficiency. The test analyzes the level of asparagine synthetase activity and can provide valuable information for the treatment and management of affected individuals.

By referencing scientific articles and databases such as PubMed and OMIM, researchers and healthcare professionals can stay up-to-date with the latest advancements in ASNS-related diseases and genetic testing. This information is crucial in providing accurate diagnoses and developing effective treatment plans for individuals with ASNS deficiency.

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 genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

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The catalog includes information on various genetic diseases, including those associated with the ASNS gene. The ASNS gene, also known as asparagine synthetase deficiency, is a gene that plays a crucial role in the synthesis of the amino acid asparagine. Mutations or changes in this gene can lead to severe health conditions.

OMIM provides detailed information on various aspects related to genetic diseases, including genetic testing, scientific articles, additional resources, and references. It serves as a centralized database where users can find relevant information on genes, diseases, and related tests.

For individuals looking for information on ASNS gene-related conditions like ASNS deficiency, OMIM provides a wealth of resources. Users can access scientific articles, testing information, and other related resources to understand the condition better.

OMIM serves as a barrier-free platform where individuals can access accurate and up-to-date information on genetic conditions. It ensures that individuals have access to reliable information to aid in the understanding, diagnosis, and management of genetic diseases.

The catalog also provides information on other genetic diseases, not just those associated with the ASNS gene. Users can browse through the catalog to find information on various genetic conditions and access the relevant resources and references.

In conclusion, OMIM’s catalog is a valuable resource for individuals and healthcare professionals seeking information on genetic diseases. It provides a comprehensive database of genes and diseases, including conditions related to the ASNS gene. The catalog offers information on genetic testing, scientific articles, additional resources, and references, making it a valuable tool for genetic health research and development.

Gene and Variant Databases

Scientific research on genes and variants relies heavily on the availability of accurate and comprehensive databases. These databases serve as central repositories that store information about genes, genetic variations, and their associations with diseases and health conditions. They provide a wealth of valuable information to researchers, clinicians, and other health professionals.

Gene and variant databases are designed to facilitate the storage, retrieval, and analysis of genetic information. They include references to relevant scientific articles, clinical and experimental data, and other resources essential for genetic research and testing.

One of the most well-known gene databases is GenBank, maintained by the National Center for Biotechnology Information (NCBI). GenBank provides a comprehensive collection of DNA and protein sequences, including those associated with the ASNS gene. It allows researchers to access genetic information related to various organisms and make further analyses.

Another valuable resource is OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders. OMIM provides detailed information on the molecular basis of diseases, including ASNS-related diseases, along with associated phenotypes, inheritance patterns, and relevant clinical studies.

In addition to these central databases, there are several other gene-specific databases and variant repositories. For example, the ASNS gene is listed in the Human Gene Mutation Database (HGMD), which collects information on germline and somatic mutations causing human genetic diseases.

Some databases focus on specific types of genetic changes. For example, the Leiden Open Variation Database (LOVD) specializes in storing information about the DNA sequence variations and their clinical relevance. LOVD provides an interactive platform for researchers and clinicians to share and analyze data related to specific genes and variants.

Genetic testing and variant interpretation also heavily rely on these databases. Clinicians and geneticists can use these resources to retrieve information on specific variants, assess their pathogenicity, and interpret the results of genetic tests. This helps in diagnosing genetic diseases and providing appropriate management and counseling for patients and families.

In summary, gene and variant databases play a crucial role in scientific research, genetic testing, and clinical practice. They provide a wide range of information on genes, variants, and associated diseases. By centralizing and organizing this information, these databases help researchers, clinicians, and other professionals in the field to advance our understanding of genetics and improve patient care.

References

  • Development of genetic tests. Testing databases. Health resources. Genetic tests are central to these.
  • Variant asparagine synthetase deficiency. Genes related to ASNS gene. These genes are listed on the OMIM catalog.
  • Scientific articles on genetic diseases. Testing for severe conditions. Changes in the ASNS gene.
  • Barrier to ammonia. Information on TS11 deficiency.
  • Publications on the ASNS gene and related conditions in PubMed.