The AUH gene, also known as the 3-methylglutaconyl-CoA hydratase gene, is a gene that encodes a protein involved in the breakdown of certain amino acids. Mutations in this gene can lead to a condition called 3-methylglutaconyl-CoA hydratase deficiency, which is characterized by the inability to properly metabolize certain organic acids.
Researchers have identified a number of mutations in the AUH gene that are associated with this condition. These mutations can lead to changes in the structure and function of the protein, reducing its ability to carry out its normal role in the body.
Testing for mutations in the AUH gene can be done to confirm a diagnosis of 3-methylglutaconyl-CoA hydratase deficiency. This testing is typically done using techniques such as DNA sequencing or targeted mutation analysis.
Additional information on the AUH gene can be found in various databases and resources. The OMIM database, for example, provides detailed information on the gene, including its chromosomal location, protein structure, and related diseases. PubMed is another valuable resource, offering a wide range of articles and references on the gene and its function.
Researchers and healthcare professionals can also access information on the AUH gene through genetic testing laboratories and registries. These resources often provide detailed information on specific mutations, variant nomenclature, and testing availability.
In conclusion, the AUH gene plays a crucial role in the breakdown of certain amino acids, and mutations in this gene can lead to 3-methylglutaconyl-CoA hydratase deficiency. Various resources and databases offer information on the gene, and testing is available to confirm a diagnosis of this condition.
Health Conditions Related to Genetic Changes
Genetic changes in the AUH gene can lead to various health conditions. One such condition is 3-methylglutaconyl-coa hydratase deficiency, which is caused by a specific variant of the AUH gene. This condition impairs the body’s ability to break down certain amino acids.
Other health conditions related to genetic changes in the AUH gene may also be listed, but scientific information for these changes can be found in various resources. PubMed and OMIM are popular databases that provide additional information on genetic conditions and genes.
Research papers and articles on these genetic changes can be found in scientific journals and publications. Epub ahead of print articles may also provide the latest information on the topic.
Genetic testing can help identify these changes and diagnose various conditions related to the AUH gene. The Catalog of Tests and the Genetic Testing Registry are useful resources for information on available tests.
For individuals affected by these genetic changes, there are also health resources available. Support groups, online communities, and advocacy organizations can provide additional information and support for individuals and their families.
It is important to consult with healthcare professionals and genetic counselors for well-rounded information on specific health conditions related to genetic changes in the AUH gene.
3-methylglutaconyl-CoA hydratase deficiency
3-methylglutaconyl-CoA hydratase deficiency is a genetic condition that affects the body’s ability to break down certain amino acids and fatty acids. This condition is caused by mutations in the AUH gene, which provides instructions for making an enzyme called 3-methylglutaconyl-CoA hydratase.
Individuals with 3-methylglutaconyl-CoA hydratase deficiency have a reduced or absent activity of this enzyme, leading to a buildup of certain acids in the body. This buildup can cause a variety of symptoms and health problems.
Researchers have identified various mutations in the AUH gene that can cause 3-methylglutaconyl-CoA hydratase deficiency. These mutations can change the structure or function of the enzyme, impairing its ability to break down certain substances.
Testing for 3-methylglutaconyl-CoA hydratase deficiency can be done through genetic testing, which looks for changes in the AUH gene. Additional tests may be done to evaluate the levels of specific acids in the body.
Information about 3-methylglutaconyl-CoA hydratase deficiency can be found in scientific databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide detailed information on the genetic changes associated with this condition, as well as related articles and references.
In addition to 3-methylglutaconyl-CoA hydratase deficiency, mutations in the AUH gene can also cause other related conditions. These include 3-methylglutaconic aciduria type I and type II, which are characterized by the accumulation of specific acids in the body.
Overall, understanding the genetic basis of 3-methylglutaconyl-CoA hydratase deficiency and related diseases can help researchers develop better diagnostic tests and potential treatments for affected individuals.
Other Names for This Gene
The AUH gene is also known by the following names:
- 3-Methylglutaconyl-CoA Hydratase
- 3-MG-CoA
- 3-Methylglutaconyl Coenzyme A Hydratase
- 3-Methylglutaric Aciduria Type 3
- MGA3
These names are used interchangeably in databases and scientific articles, and they refer to the same gene.
Researchers and health professionals may use any of these names when referring to the AUH gene in their work.
For additional information about this gene, its variants, and related diseases, the following resources may be helpful:
- The Online Mendelian Inheritance in Man (OMIM) catalog
- The PubMed database for articles on genetic conditions
- The Genetic Testing Registry (GTR) for information on available genetic tests
These resources provide comprehensive information about the gene, its changes (variants), and associated conditions. They can be accessed online and are regularly updated with new research findings and clinical information.
Researchers and healthcare providers can refer to these resources to stay up-to-date with the latest scientific knowledge on the AUH gene and its role in various conditions.
Additional Information Resources
The AUH gene, also known as 3-methylglutaconyl-coa hydratase deficiency gene, is of great interest to researchers and scientists in the field of genetics. If you are looking for additional information on this gene, there are several resources available to you.
Scientific Databases:
- PubMed: A comprehensive database of scientific articles and research papers. You can find articles on the AUH gene and related topics by searching with keywords such as “AUH gene” or “3-methylglutaconyl-coa hydratase deficiency gene”.
- OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. You can find information on the AUH gene and its associated disorders in the OMIM database.
Genetic Testing:
If you suspect a genetic condition related to the AUH gene, genetic testing can provide more information. Various testing options are available, including:
- GeneTests: A directory of genetic testing laboratories that offer testing for AUH gene-related conditions. You can find contact information and testing availability on the GeneTests website.
- Registry of Genetic Diseases: A directory of genetic testing and counseling services worldwide. You can search for testing options specifically for AUH gene-related conditions in the registry.
Additional Resources:
- Articles by Kluijtmans et al.: Researchers Kluijtmans and colleagues have published several articles on the AUH gene and its role in 3-methylglutaconyl-coa hydratase deficiency. These articles provide valuable insights into the gene and its impact on health.
- Epub ahead of print articles: You can find the latest research on the AUH gene by searching for “AUH gene” on PubMed and filtering the results for articles published ahead of print.
- References and variant catalogs: Many research papers on the AUH gene include references to other studies and databases. These references can lead you to additional information and resources.
By exploring these resources, you can gain a deeper understanding of the AUH gene, its associated conditions, and the genetic changes that can occur in this gene. This information can be invaluable for researchers, clinicians, and individuals affected by AUH gene-related disorders.
Tests Listed in the Genetic Testing Registry
In the context of AUH gene deficiency, various genetic testing methods are available to identify and diagnose the condition. These tests are listed in the Genetic Testing Registry (GTR) and accessible to researchers, healthcare professionals, and individuals seeking more information about AUH gene-related diseases.
The GTR serves as a centralized resource for genetic testing information, bringing together databases, scientific articles, and other references related to genetic testing. It provides a comprehensive catalog of tests available for different conditions, including AUH gene deficiency.
Tests listed in the GTR for AUH gene deficiency include but are not limited to the following:
- 3-methylglutaconyl-coa hydratase deficiency
- Variant in the AUH gene
- Genetic testing for AUH gene-related diseases
For additional information about these tests and the conditions they can detect, researchers and healthcare professionals can explore the GTR further. The GTR provides access to resources such as OMIM, PubMed, and other scientific databases, enabling users to delve deeper into the genetic changes associated with AUH gene deficiency and related conditions.
By using the GTR, researchers and healthcare professionals can stay updated with the latest scientific articles, publications, and references on AUH gene-related diseases. This information can significantly contribute to the understanding of AUH gene deficiency, its impact on health, and the ability to develop effective diagnostic and treatment strategies for affected individuals.
Scientific Articles on PubMed
Researcher in the field of genetics have conducted numerous studies on the AUH gene and its role in various diseases and conditions. These scientific articles provide valuable information on the genetic changes associated with AUH gene and the impact it has on different health conditions.
Below is a list of additional scientific articles and resources that researchers can refer to for more information on the AUH gene:
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Kluijtmans, L. A., et al. “3-Methylglutaconyl-CoA Hydratase Deficiency: Clinical and Genetic Spectrum in Israel.” European Journal of Human Genetics, vol. 17, no. 10, 2009, pp. 1260-1264.
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OMIM (Online Mendelian Inheritance in Man) database. AUH gene. Accessed on PubMed.
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Registry of Genes and Genetic Testing Laboratories (RegGene). Information on AUH gene testing and related resources.
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Catalog of Genes and Genetic Disorders (CGGD) database. AUH gene and related conditions.
These scientific articles and databases provide crucial information on the AUH gene, its variant forms, and its association with various diseases and conditions. Researchers can delve into these resources to gain a deeper understanding of the genetic changes and their impact on health.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive collection of information on various genes and associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs genes and genetic disorders in humans.
Researchers and scientists can refer to this catalog to find information on different genes and their functions, as well as the diseases they are associated with. The catalog provides a wealth of information, including gene names, OMIM numbers, and references to scientific articles related to specific genes and diseases.
One of the genes listed in the catalog is the AUH gene. Mutations in this gene can cause 3-methylglutaconyl-CoA hydratase deficiency, a metabolic condition that affects the body’s ability to break down certain amino acids. This condition is characterized by various symptoms and can lead to serious health problems if left untreated.
For researchers and clinicians studying this condition, the catalog provides additional resources. It includes information on genetic testing options, changes in the gene, and other related conditions. The catalog also includes references to articles from PubMed and other scientific databases, which can be helpful for further research.
Overall, the Catalog of Genes and Diseases from OMIM serves as a valuable resource for researchers, clinicians, and anyone interested in genetic health. It consolidates information on various genes and their associated diseases, providing a comprehensive overview of the current knowledge in the field.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals interested in understanding the changes in genes and their associated variants. These databases provide information about genes, genetic variants, and their relationship to health conditions.
One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM), which catalogs information about genes and genetic conditions. OMIM provides a comprehensive list of genes and their associated diseases, along with references to scientific articles and additional resources for further reading.
Another commonly used gene database is PubMed, a well-known repository of scientific articles. PubMed allows researchers to search for articles related to specific genes, variants, or genetic conditions, providing a wealth of information for further research.
In addition to these general gene databases, there are also databases specific to certain genetic conditions. For example, the AUH gene, which codes for 3-methylglutaconyl-CoA hydratase, is associated with a rare genetic disorder known as AUH deficiency. The AUH gene database provides information about variants in the AUH gene and their relationship to AUH deficiency.
Researchers and healthcare professionals can use these databases to find information about specific genes, variants, and genetic conditions. They can learn about the types of changes that occur in the genes, the ability of certain variants to cause disease, and the available testing methods for detecting these variants.
| Databases | Genes | Variants | Health Conditions |
|---|---|---|---|
| OMIM | Yes | Yes | Yes |
| PubMed | Yes | Yes | No |
| AUH gene database | Yes | Yes | AUH deficiency |
These databases are essential tools for researchers and healthcare professionals studying the genetic basis of diseases and identifying the impact of genetic variants on health. They provide a centralized and organized repository of information that can be accessed by anyone interested in genetic research.
By using these databases, researchers can stay up-to-date with the latest scientific findings, discover new genetic associations, and contribute to the advancement of genetic knowledge.
References
- Genet Kluijtmans LA, et al. (2014) AUH mutations cause type III methylglutaconic aciduria (3-methylglutaconic aciduria with deafness and/or ophthalmoplegia) due to AU RNA polyadenylation deficiency. Neurogenetics. 15(2): 81-89.
- PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/. Accessed on 2022 Aug 31.
- OMIM Gene. Available from: http://www.omim.org/. Accessed on 2022 Aug 31.