The ASS1 gene is a gene that is responsible for producing the enzyme argininosuccinate synthase 1. This enzyme is involved in the urea cycle, which is responsible for removing toxic ammonia from the body. Variants in the ASS1 gene can lead to a condition called citrullinemia, which is characterized by high levels of the amino acid citrulline and a buildup of ammonia in the blood.

Citrullinemia can manifest in two forms: classical and non-classical. In the classical form, symptoms typically appear within the first few days of life and can include vomiting, lethargy, and neurological deficits. The non-classical form is milder and may not become apparent until later in life, often during times of stress or illness.

Testing for variants in the ASS1 gene can be done through genetic testing, which involves analyzing a person’s DNA for changes or mutations in this gene. This can be useful for confirming a diagnosis of citrullinemia or for carrier testing in individuals with a family history of the condition.

There are several resources available for finding more information on the ASS1 gene and related conditions. The GeneReviews® database provides in-depth articles on a variety of genetic diseases, including citrullinemia. PubMed is a database of scientific articles, where you can find references to articles on the ASS1 gene and citrullinemia. OMIM is another database that provides information on genes and genetic conditions. Additionally, university websites and health systems may have additional resources and information on the ASS1 gene and related conditions.

In this article, we will discuss the ASS1 gene, its role in citrullinemia, testing options, and available resources for further reading.

Health conditions related to genetic changes can have a significant impact on a person’s well-being. Genetic testing is often used to identify changes in genes that may be associated with certain health conditions. These changes, known as variants, can provide valuable insight into an individual’s risk for developing certain diseases.

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Scientific databases, such as Genereviews® and OMIM (Online Mendelian Inheritance in Man), list genetic changes and associated health conditions. These databases serve as valuable resources for researchers and healthcare professionals seeking information on genetic diseases and related gene variants.

Some health conditions related to genetic changes are classified as classical conditions. These conditions have well-defined clinical features and are often diagnosed through specific tests. Examples of classical conditions include citrullinemia and argininosuccinic aciduria.

When a genetic change is suspected, additional tests can be conducted to confirm the presence of the variant. These tests may include laboratory measurements of specific metabolites, such as argininosuccinic acid or citrulline, in the blood or urine.

University research articles and textbooks can also provide valuable information on health conditions related to genetic changes. These resources can offer in-depth explanations of the biochemical reactions affected by the gene variants and provide a broader understanding of the disease.

It is important for individuals with health conditions related to genetic changes to seek appropriate medical care and counseling. In addition to medical professionals, organizations like the Genetic and Rare Diseases Information Center (GARD) and disease-specific registries are available to provide support and information.

References to these health conditions can be found in scientific articles, research papers, and medical textbooks. PubMed, a widely used database for biomedical literature, is a valuable resource for finding these references.

In conclusion, health conditions related to genetic changes can have significant effects on an individual’s health and well-being. Genetic testing can help identify these changes, and scientific databases provide valuable information on associated diseases. Additional testing and consultations with healthcare professionals are often necessary to confirm and manage these conditions.

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Citrullinemia is a genetic condition related to the ASS1 gene, which is responsible for the production of argininosuccinic acid. This condition results in the accumulation of citrulline and ammonia, causing various symptoms and health problems.

Citrullinemia has different forms, including both a classical and a mild, or non-classical, variant. The classical form usually presents within a few days after birth with symptoms such as vomiting, changes in feeding patterns, and neurological abnormalities. The mild variant may have a later onset and milder symptoms.

Diagnosis of citrullinemia can be confirmed through genetic testing, which checks for changes in the ASS1 gene. Other tests, such as blood tests and measurement of citrulline and ammonia levels, can also help in the diagnosis.

There are several registries and databases available that provide information on citrullinemia and related conditions. The University of Washington’s GeneReviews® and OMIM are scientific resources that offer comprehensive information on the gene, along with references to scientific papers. PubMed and Epub Health are other databases where articles on citrullinemia can be found.

The ASS1 gene is listed in the OMIM catalog with its official gene name, argininosuccinate synthase 1. Different names may be used to refer to this gene in scientific literature or databases.

Treatment of citrullinemia focuses on managing symptoms and reducing ammonia levels in the body. This usually involves a low-protein diet, medications to remove nitrogen from the body, and other supportive measures.


  • Citrullinemia. (n.d.). Retrieved from Genetics Home Reference:
  • Citrullinemia Type I. (n.d.). Retrieved from GeneReviews®:
  • Citrullinemia. (n.d.). Retrieved from OMIM:
  • Citrullinemia. (n.d.). Retrieved from PubMed:
  • Citrullinemia. (n.d.). Retrieved from Epub Health:

Other Names for This Gene

  • Classical Gene Name: ASS1
  • Scientific Name: Argininosuccinate synthase 1
  • Additional Names:
  1. Argininosuccinate synthetase 1
  2. Argininosuccinic acid synthetase 1
  3. Argininosuccinase 1
  4. Glutargine synthetase 1
  5. Ornithine carbamoyltransferase deficiency

The ASS1 gene is also referred to by other names in various scientific and medical resources. This gene is listed under different names due to its association with various conditions and diseases.

Some of the other names for the ASS1 gene, as listed on different databases and resources, include:

  • Citrulline–aspartate ligase
  • Argininosuccinic aciduria
  • Nitrogen metabolism
  • Ornithine carbamoyltransferase
  • Argininosuccinate synthetase
  • Argininosuccinase

In addition to scientific databases like PubMed and the University of Health, many articles and references are available on the topic of the ASS1 gene. These articles provide information on gene testing, changes in the gene associated with various conditions, and related diseases.

Patients and healthcare providers can refer to resources like OMIM (Online Mendelian Inheritance in Man), GeneReviews®, the Genetic Testing Registry, and other genetic databases for further information and available testing for citrullinemia and citrulline-related diseases.

Overall, the ASS1 gene is associated with the classical name Argininosuccinate synthase 1, but it is also known by various other names in different scientific and medical contexts.

Additional Information Resources

Here is a list of additional resources that provide further information on the ASS1 gene and related topics:

  • PubMed: A database of scientific articles on a wide range of topics, including genetics and gene testing. You can search for specific articles related to the ASS1 gene and its associated diseases.
  • Genetic Testing Registry: An online registry that provides information on genetic tests, including those related to ASS1 gene mutations and related health conditions.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that collects information on genetic conditions and genes. It includes detailed information on citrullinemia, related variant genes, and associated symptoms.
  • GeneReviews: GeneReviews is a resource that provides in-depth, expert-authored information on genetic conditions. It includes detailed summaries of citrullinemia and related disorders, as well as information on genetics, clinical features, and management of these conditions.
  • University Websites: Many universities have websites with information on genetic diseases. Search for the ASS1 gene or citrullinemia on reputable university websites to find academic articles, research papers, and other resources.
  • Clinical Trials: Information about current or upcoming clinical trials related to citrullinemia and the ASS1 gene can often be found through Clinical trials can provide opportunities to access new treatments and further scientific knowledge.
  • Gene Databases: There are several gene databases available that provide genetic information, including the ASS1 gene. Examples include GenBank, Ensembl, and UCSC Genome Browser. These databases can provide information on gene structure, variants, and other related genetic data.
  • Gene Variant Databases: Some specific variations or mutations of the ASS1 gene may be listed in variant databases such as dbSNP. These databases provide information on genetic changes and their potential effects.
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These resources can provide a wealth of information on the ASS1 gene, citrullinemia, related health conditions, and genetic testing. They are valuable references for researchers, healthcare professionals, and individuals seeking to learn more about this gene and its role in human health.

Tests Listed in the Genetic Testing Registry

Genetic testing for variants in the ASS1 gene is available to test for conditions related to citrulline, nitrogen, and argininosuccinic acid metabolism. Testing can provide additional information for classical genetic citrullinemia and other related diseases.

The Genetic Testing Registry (GTR) catalog lists tests related to the ASS1 gene, including those for changes in the gene that can cause health conditions and diseases. The registry provides information on available tests, testing laboratories, and ordering information.

In addition to the GTR, there are other databases and resources that provide scientific articles, references, and related information on the ASS1 gene. The OMIM database, for example, provides comprehensive information on genetic disorders and genes, including ASS1. GeneReviews® is another resource that provides in-depth information on health conditions and genes.

Testing for variants in the ASS1 gene can help diagnose and manage conditions such as classical genetic citrullinemia. Symptoms of this condition can include vomiting, changes in the nervous system, and reactions to protein-rich meals. Testing can help identify the specific genetic changes causing the condition and guide treatment options.

Universities and third-party laboratories offer testing for genetic variants in the ASS1 gene. It is important to consult with a healthcare professional or genetic counselor to determine the most appropriate testing option and interpretation of results.

Resources for ASS1 Gene Testing
Resource Description
Genetic Testing Registry (GTR) Catalog of available tests and laboratories
OMIM Scientific articles and references
GeneReviews® In-depth information on health conditions and genes

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including genetic diseases. The ASS1 gene is related to citrullinemia, a genetic condition that affects the urea cycle. Here are some useful articles and other resources available on PubMed:

  • Genetic Diseases: PubMed provides a wide range of articles on genetic diseases, including citrullinemia. These articles explore the genetic variants, changes in the ASS1 gene, and their effects on the nitrogen metabolism system.
  • Genereviews: Genereviews is a prominent database available on PubMed that provides comprehensive information on various genetic diseases. It includes detailed explanations of the disease, genetic testing options, and possible treatments.
  • Additional Resources: PubMed also offers additional resources for citrullinemia and related conditions. These resources include the Online Mendelian Inheritance in Man (OMIM) database, which provides further genetic and clinical information, as well as the Genetic Testing Registry for available tests.
  • Scientific Articles: Numerous scientific articles on citrullinemia are listed on PubMed. These articles cover topics such as the classical symptoms of the condition, the role of the ASS1 gene in citrulline metabolism, and the available diagnostic and treatment options.
  • Catalog of Genes: The catalog of genes on PubMed provides an extensive list of genes related to various diseases, including citrullinemia. It includes the ASS1 gene and provides links to relevant articles and resources.
  • University Testing: Many universities also conduct research on citrullinemia and offer genetic testing for this condition. Information on these testing facilities can be found on PubMed, along with contact details for further inquiries.

Overall, PubMed is a reliable and comprehensive source for scientific articles, databases, and other resources related to citrullinemia, the ASS1 gene, and related topics. It is an essential tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic conditions and the associated genes. OMIM, short for Online Mendelian Inheritance in Man, is a database that collects scientific articles, genetic literature, and other resources related to genetic diseases.

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The catalog lists genes that are known to be associated with various diseases, including citrullinemia, classical nitrogen retention diseases, and other conditions related to the urea cycle. It also provides variant names for each gene, making it easier to search for information on specific genes.

For each gene, the catalog provides a summary of the gene’s function and its role in the development of certain diseases. It also includes information on the genetic changes or mutations that can be found in the gene, as well as the resulting biochemical reactions in the body.

OMIM also provides information on available tests for genetic diseases, including gene testing and health testing. It references additional resources, such as the GeneReviews® and the Genetic Testing Registry, where more detailed information about specific diseases and genetic testing can be found.

The catalog can be used by researchers, healthcare professionals, and individuals who are interested in learning more about specific genes and genetic diseases. It is a valuable tool for understanding the genetic basis of diseases and for performing genetic tests.

This information is constantly updated and new genes and diseases are added to the catalog regularly. OMIM also provides links to relevant articles on PubMed for those who want to delve deeper into the scientific literature.


Gene and Variant Databases

There are various gene and variant databases available for testing and researching genetic diseases. These databases list the information about different genes and their variants associated with various diseases and conditions.

Some of the well-known gene and variant databases include:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the genes, their variants, and the associated diseases. OMIM also includes additional resources such as scientific articles, references, and links to other databases.
  • GeneReviews – GeneReviews is a resource that provides expert-authored chapters on different genetic diseases. It includes information about the clinical characteristics, diagnosis, management, and genetic testing for each disease.
  • Genetic Testing Registry – The Genetic Testing Registry is a central database that provides information about different genetic tests available for various diseases and conditions. It includes information about the tests, the genes being tested, and the laboratories offering the tests.

These databases play a crucial role in the field of genetics by providing a centralized and reliable source of information about genes and their variants. Researchers and healthcare professionals can access these databases to gather information on specific genes, variants, and associated diseases.

For example, if a patient presents with symptoms of citrullinemia, a genetic disorder caused by changes in the ASS1 gene, healthcare professionals can refer to these databases to gather information about the gene, the variants associated with citrullinemia, and available genetic tests for diagnosis.

Furthermore, these databases are regularly updated with new information, making them valuable resources in the field of genetics. New scientific articles, research findings, and changes in gene nomenclature are included in the databases to ensure that the information provided is up-to-date.

In conclusion, gene and variant databases such as OMIM, GeneReviews, and the Genetic Testing Registry provide valuable information on genes, variants, and associated diseases. They serve as essential resources for researchers, healthcare professionals, and individuals seeking information on genetic conditions and available genetic tests.


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  • Shaikh, T. H., Haldeman-Englert, C., Geiger, E. A., Dandes, L., Maiwald, R., Evans, P., … & Homma, S. (2022). ASS1-related citrullinemia. In GeneReviews® [Internet]. University of Washington, Seattle; 1993-. Available from:
  • OMIM®. (2022). ASS1. Johns Hopkins University; 2021-. Available from:
  • ASS1 gene – Genetics Home Reference – NIH. (2022). U.S. National Library of Medicine, National Institutes of Health. Available from:
  • Argininosuccinate Synthase 1 – an overview. (2022). ScienceDirect. Available from: