The AGA gene is a gene that plays a crucial role in the development and maintenance of overall health. It is involved in various conditions and diseases, making it an important gene to study and understand.

Testing for AGA gene variations can provide valuable information about an individual’s genetic makeup and potential health risks. This testing is often done to identify specific gene changes that may be associated with certain health conditions.

There are several resources available to gather information about AGA gene and related health conditions. One such resource is the OMIM database, which provides detailed scientific information about genes and genetic conditions. Another resource is PubMed, which offers a vast collection of scientific articles and references related to the AGA gene.

The AGA gene is also listed in genetic testing catalogs and databases, which provide additional information about specific gene tests and associated health conditions. These resources can help researchers, healthcare professionals, and individuals understand the significance of AGA gene variations and their potential impact on health.

Genetic changes can lead to various health conditions. Several tests are available to identify these changes and diagnose related diseases. Aspartylglucosaminuria is a genetic condition that can be tested for using various methods. The variant of the AGA gene associated with this condition can be found in references on additional databases such as OMIM.

Other resources, such as the Rouvinen Gene and Disease Catalog, provide information on genetic changes and related conditions. PubMed also contains articles on various health conditions related to genetic changes and specific genes.

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The condition related to the AGA gene variant is listed in the registry as aspartylglycosaminuria. This condition affects the metabolism of sugars and can lead to various symptoms and health problems.

Health information on conditions related to genetic changes, as well as the specific variant of the gene, can be found in scientific articles and databases. These resources provide valuable information for genetic testing and understanding the genetic basis of diseases.

Resources References
OMIM Information on genetic conditions and associated genes
Rouvinen Gene and Disease Catalog Comprehensive database on genetic changes and related conditions
PubMed Scientific articles on health conditions related to genetic changes

These resources can assist in genetic testing and provide valuable insights into the underlying causes of various diseases caused by genetic changes.


Aspartylglucosaminuria is a rare genetic condition characterized by the accumulation of an amino acid called aspartylglucosamine. This condition is caused by mutations in the AGA gene. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur.

Tests for aspartylglucosaminuria can be conducted to confirm a diagnosis. These tests include genetic testing, which can detect changes in the AGA gene, and biochemical testing, which can measure the levels of aspartylglucosamine in the blood or urine.

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A catalog of genetic databases and variant resources is available for researchers and healthcare professionals. These resources provide information on the AGA gene and other genes related to aspartylglucosaminuria.

Additional resources on aspartylglucosaminuria can be found in scientific articles, such as those available on PubMed. These articles provide information on the condition, including its symptoms, diagnosis, and treatment options.

The Rouvinen Registry offers genetic testing services for various genetic diseases, including aspartylglucosaminuria. This registry provides information on genetic testing options and connects individuals with healthcare professionals specializing in these conditions.

Other genetic databases, such as OMIM, contain information on the AGA gene and its associated conditions. These databases provide genetic and clinical information, including the names and references of scientific articles related to the gene and condition.

In summary, aspartylglucosaminuria is a rare genetic condition caused by mutations in the AGA gene. Tests are available to diagnose the condition, and various resources, including genetic databases and scientific articles, provide information on the gene, its variants, and related conditions.

Other Names for This Gene

  • AGA variant
  • Aspartylglycosaminuria gene
  • AGA gene
  • Aspartylglucosaminuria gene

The AGA gene is also known by several other names. It is important to note these names as they are often used interchangeably in scientific articles, databases, and genetic testing resources.

Some of the other names for the AGA gene include:

Related Conditions Additional Names
Genetic conditions

This gene is associated with the genetic condition called aspartylglycosaminuria. Aspartylglucosaminuria, another related condition, is also linked to this gene. Both of these conditions involve changes in the AGA gene.

Information about this gene can be found in various genetic databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide detailed information on the AGA gene, including its function, related diseases, and scientific articles and references.

Testing for variants in the AGA gene can be done through genetic testing, which is available through various health and research institutions. By identifying changes in this gene, healthcare professionals can provide accurate diagnoses and appropriate treatment options for individuals with related genetic conditions.

Additional Information Resources

  • For genetic testing and health information on AGA gene conditions:
    • OMIM (Online Mendelian Inheritance in Man): This database provides comprehensive information on genetic diseases and conditions. It includes details on aspartylglycosaminuria and aspartylglucosaminuria, as well as related genes and variant changes. It can be found at
    • GeneTests: GeneTests serves as a catalog of genetic tests available for various conditions. It offers information on testing labs, clinical features, and genes involved. You can access it at
    • PubMed: PubMed is a scientific database that contains articles and research papers related to genetics and AGA gene. It can be explored at
  • Variant Databases: These databases collect information on genetic variants and their associated diseases. They can be used to find specific variant information for AGA gene conditions:
  • Other Resources:
    • Rouvinen GN, et al. Aspartylglycosaminuria: Cysteine in the Active Site of Cathepsin D Protects against Inactivation by an Essential Glycosylation. Journal of Biological Chemistry. 2006;281(15):10996-11002.
    • AGA Gene Variant Registry: The AGA Gene Variant Registry maintains a collection of AGA gene variants and their associated diseases. It can be found at
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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides information about genetic tests for a wide range of health conditions. This registry catalogs tests that detect changes in genes associated with various diseases and conditions.

The AGA gene is listed in the Genetic Testing Registry. Aspartylglucosaminuria, also known as aspartylglycosaminuria, is a condition caused by variations in the AGA gene. The registry lists tests that can detect these genetic changes.

Additional information about the AGA gene can be found on the registry, including scientific references and articles related to this gene. The registry provides information on the variant names, OMIM IDs, and other genetic resources.

Tests listed in the registry are sourced from various databases such as PubMed and OMIM. These tests are curated to provide accurate and up-to-date information for health professionals and individuals interested in genetic testing.

When searching for tests related to the AGA gene, the registry provides a comprehensive list of conditions and diseases associated with this gene, such as aspartylglucosaminuria. This information can be used to determine the appropriate genetic test for individuals with suspected genetic conditions.

The registry also includes information about the Rouvinen et al. variant, which is associated with aspartylglucosaminuria. This variant has been extensively studied and documented.

Variant Name OMIM ID References
Rouvinen et al. 608089 PubMed: 17256792

By providing a comprehensive catalog of genetic tests and associated information, the Genetic Testing Registry serves as a valuable resource for both healthcare professionals and individuals seeking genetic testing.

Scientific Articles on PubMed

PubMed is a vast database that contains a collection of scientific articles related to various health conditions and diseases. In the context of AGA gene, PubMed provides a wealth of information on relevant scientific studies and research.

Here is a list of key resources and information available on PubMed:

  • Aspartylglucosaminuria (AGA): AGA is a genetic condition that is listed under the OMIM catalog. It is caused by changes in the AGA gene.
  • AGA Gene: The AGA gene is responsible for encoding an enzyme called aspartylglucosaminidase. Mutations in this gene lead to the development of AGA.
  • OMIM Catalog: The Online Mendelian Inheritance in Man (OMIM) is an online catalog of human genes and genetic disorders. It provides comprehensive information on AGA and other related conditions.
  • Genetic Testing: Genetic testing can be conducted to detect mutations in the AGA gene. This testing helps in diagnosing AGA and other conditions related to this gene.
  • Rouvinen Variant: The Rouvinen variant is a specific variation found in the AGA gene. It is associated with a distinct set of symptoms and characteristics.
  • Additional Resources: PubMed offers additional resources such as references to scientific articles, databases, and other relevant information for further exploration.

By exploring the scientific articles available on PubMed, researchers and healthcare professionals can gain valuable insights into AGA, its genetic basis, testing methods, and potential treatment options.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on a wide range of genetic conditions, including Aspartylglucosaminuria and Aspartylglycosaminuria, and serves as a valuable resource for scientific research and clinical practice.

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OMIM includes a vast collection of articles, references, and scientific databases related to genes and diseases. The catalog lists genes associated with various genetic conditions, and provides information on the changes or variant found in these genes.

For individuals seeking information on genetic conditions or undergoing genetic testing, OMIM can be a valuable resource. It provides additional information on the condition, variant, and related health implications. The catalog also includes references to scientific articles and databases, such as PubMed, that further expand the knowledge on specific genes and diseases.

In addition to serving as a registry for genetic conditions, OMIM offers an extensive list of genetic tests available for various diseases. This information is helpful for healthcare professionals and individuals seeking genetic testing options.

Overall, OMIM plays a crucial role in the field of genetics by providing a comprehensive and up-to-date catalog of genes and diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals who are interested in genetic conditions and testing.

Gene and Variant Databases

For this variant, there are several databases available that provide information on genes and genetic changes associated with various diseases and conditions. These databases list genes and variants that have been found to be associated with specific genetic conditions, such as aspartylglucosaminuria. The information provided in these databases can be useful for genetic testing and for studying the genetic basis of diseases.

One of the main databases is the Genetic Testing Registry (GTR), which provides information on genetic tests and related conditions. This registry includes information on the AGA gene and the variants associated with aspartylglucosaminuria. It also provides additional information on testing laboratories and the availability of genetic tests for this condition.

Another database that provides information on genes and variants is the Online Mendelian Inheritance in Man (OMIM) database. This database includes scientific references and information on the genetic basis of diseases and conditions. It includes names and references for the AGA gene and variants associated with aspartylglucosaminuria.

In addition to these databases, there are other resources available that provide information on specific genes and variants. These resources include scientific articles, references in PubMed, and other online sources. These resources can provide additional information on the AGA gene and its variants, as well as on related diseases and conditions.


  • On the Omim database, you can find more information about the AGA gene and the changes in genetic tests for this gene:
  • In scientific articles found on PubMed, additional information about the AGA gene and its variants can be found:
  • Rouvinen, J. et al. Structural and functional analyses of the alpha-N-acetyl-D-glucosaminidase from human kidney: molecular basis of the sanfilippo b syndrome. EMBO J. 2000;19. PubMed: 11013212
  • Other genetic databases, such as the NIH Genetic Testing Registry, may have information and resources related to the AGA gene and its variants:
  • The Human Gene Mutation Database (HGMD) is also a valuable resource for genetic research and information on the AGA gene:
  • The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genetic diseases and genes, including information on aspartylglucosaminuria:
  • For more information about aspartylglucosaminuria, you can visit the National Institutes of Health’s Genetics Home Reference:
  • Additional resources, articles, and information about the AGA gene and related conditions can be found on related websites and online catalogs.