The AGXT gene, also known as alanine-glyoxylate aminotransferase gene, is an essential gene responsible for the synthesis of the alanine-glyoxylate aminotransferase enzyme. This enzyme plays a crucial role in the metabolism of glyoxylate, an intermediate in the metabolism of glyoxylate, an intermediate in the metabolism of glyoxylate, an intermediate in the metabolism of glyoxylate.
Mutations in the AGXT gene have been shown to be the primary cause of primary hyperoxaluria type 1 (PH1), a rare genetic disorder characterized by the overproduction of oxalate. This leads to the formation of calcium oxalate crystals, which can accumulate in the kidneys and other organs, causing severe kidney damage and other related conditions.
Testing for mutations in the AGXT gene is crucial for the diagnosis of PH1. There are several genetic testing databases available, such as PubMed and the Online Mendelian Inheritance in Man (OMIM), that catalog the variants and other genetic changes in the AGXT gene. These resources provide a wealth of information for researchers, health professionals, and patients seeking to understand the genetic basis and clinical features of PH1 and related conditions.
In addition to genetic testing, other scientific and health resources, such as the PH1 and Related Diseases International Registry, provide additional information on the AGXT gene and its role in disease. These resources are invaluable for researchers and healthcare professionals looking to further their understanding of PH1 and develop new diagnostic and therapeutic approaches.
Overall, the AGXT gene is a critical gene involved in the development and progression of primary hyperoxaluria type 1. Understanding the genetic variations and changes in this gene is essential for accurate diagnosis, and ongoing research in this area is crucial for the development of new treatments and interventions for PH1 and related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the AGXT gene can lead to various health conditions. Some of these conditions include:
- Primary hyperoxaluria type 1 (PH1): PH1 is a rare genetic disorder that affects the liver and kidneys. It is caused by changes (variants) in the AGXT gene, which result in a deficiency of the enzyme alanine-glyoxylate aminotransferase (AGT). This deficiency leads to the accumulation of oxalate in the body, which can form crystals and cause damage to the kidneys and other organs.
- Secondary hyperoxaluria: Secondary hyperoxaluria can also result from changes in the AGXT gene. In this condition, elevated levels of oxalate are caused by factors other than a genetic variant in AGXT. Secondary hyperoxaluria can be caused by certain medications, intestinal disease, or other underlying health conditions.
Genetic testing is available for both primary and secondary hyperoxaluria. Testing can help diagnose these conditions, identify specific genetic changes, and inform treatment decisions.
Resources for additional information and support include:
- The Alanine-Glyoxylate Aminotransferase (AGXT) Gene Specific Mutation Registry: This registry collects information on individuals with AGXT gene changes, including their specific genetic variants and associated health conditions.
- The Primary Hyperoxaluria Registry: This registry collects information on individuals with primary hyperoxaluria, including their genetic variants, symptoms, and treatment approaches.
- The Online Mendelian Inheritance in Man (OMIM) database: OMIM provides scientific information on the genetic basis of diseases. It includes information on the AGXT gene and related conditions.
- PubMed: PubMed is a database of scientific articles. Searching for “AGXT gene” or specific health conditions related to AGXT gene changes can provide access to research articles and studies.
It is important to consult with healthcare professionals and genetic counselors for guidance on genetic testing, interpretation of results, and treatment options for health conditions related to AGXT gene changes.
Primary hyperoxaluria
Primary hyperoxaluria is a rare genetic disorder characterized by the overproduction of oxalate, a molecule that can form crystals and accumulate in various organs and tissues. This condition is caused by mutations in the AGXT gene, which encodes the enzyme alanine-glyoxylate aminotransferase.
Information about primary hyperoxaluria can be found in scientific articles, such as those available on PubMed. Instead of scientific articles, the Harris Lab database provides additional resources and changes related to this condition. Genetic testing can also be performed to identify mutations in the AGXT gene and other genes associated with primary hyperoxaluria.
The Online Mendelian Inheritance in Man (OMIM) database and the Rumsby Lab database are other valuable resources for information on primary hyperoxaluria and related diseases and conditions.
Genetic tests can be performed to diagnose primary hyperoxaluria and determine the specific variant of the AGXT gene that is causing the condition. This information is important for proper management and treatment of affected individuals.
For further information and references on primary hyperoxaluria and related conditions, the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) may provide useful resources.
In summary, primary hyperoxaluria is a genetic disorder caused by mutations in the AGXT gene, leading to the overproduction and accumulation of oxalate. Scientific articles and databases such as PubMed, OMIM, and the Harris Lab database provide valuable information on this condition, and genetic testing can help diagnose and manage affected individuals.
Other Names for This Gene
- AGXT gene
- alanine-glyoxylate aminotransferase gene
This gene is also known as the AGXT gene, which stands for alanine-glyoxylate aminotransferase gene. It is responsible for the production of the alanine-glyoxylate aminotransferase enzyme. Mutations in this gene can cause primary hyperoxaluria type 1 (PH1), a genetic condition that affects the body’s ability to break down and eliminate a substance called oxalate. Accumulation of oxalate can lead to the formation of calcium oxalate crystals, which can cause kidney stones and other complications.
Additional names for this gene include:
- AGT1 gene
- alanine glyoxylate transaminase gene
- Ser20Leu gene
- glycine:glyoxylate aminotransferase gene
Information about this gene can be found in various genetic databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic conditions and related genes. PubMed is a valuable resource for scientific articles and references on this gene. Genetic testing is available to detect changes or variants in the AGXT gene.
It is important to consult with healthcare professionals and genetic counselors for further information and testing options. The National Institutes of Health Genetic and Rare Diseases Information Center (GARD) provides a registry of diseases and a catalog of genetic tests for various conditions. Research studies on this gene and related conditions are ongoing, and new information may become available from scientific publications and other resources.
Additional Information Resources
Genetic mutations in the AGXT gene are the cause of several related primary hyperoxaluria conditions. The AGXT gene provides instructions for making the alanine-glyoxylate aminotransferase enzyme, which is involved in the breakdown of glyoxylate, a molecule found in foods and in the body. Mutations in this gene can lead to an enzyme that is either nonfunctional or has reduced activity, resulting in the buildup of glyoxylate and the formation of crystals of calcium oxalate in various organs.
The Hyperoxaluria and Oxalosis Registry is a resource for scientific and health information related to primary hyperoxaluria and related conditions. It provides information on testing, genetic changes, and other relevant resources.
The OMIM database is a comprehensive resource for information on genetic diseases. Instead of providing articles, it lists variant names for genes and genetic conditions, along with references to scientific articles from PubMed.
PubMed is a database of scientific articles on a wide range of topics, including genetics and related conditions. It can be used to find additional information on specific genetic changes, diseases, and testing.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for health conditions. It is a valuable resource for genetic testing information, including data on tests available for the AGXT gene.
The AGXT gene is also known by other names, such as the alanine-glyoxylate aminotransferase gene. It is the primary gene associated with hyperoxaluria, a condition that causes an increase in oxalate levels in the urine.
Genetic testing for the AGXT gene can help identify the cause and type of hyperoxaluria. The GTR lists various tests available for this gene, along with additional information and resources.
The GTR provides a catalog of tests for the AGXT gene, sorted by the conditions they are associated with. Some of the conditions related to hyperoxaluria and the AGXT gene include:
- Primary hyperoxaluria type 1
- Hyperoxaluria without calcium oxalate urolithiasis
- Glyoxylate reductase/hydroxypyruvate reductase deficiency
Each test listed in the GTR includes details about the test methodology, availability, and references from genetic databases like OMIM and PubMed. This information helps healthcare providers and researchers access the relevant resources and publications related to AGXT gene testing.
Changes in the AGXT gene can lead to various genetic conditions, and the GTR provides comprehensive information on the genetic variants associated with these conditions. It also lists articles and publications that provide further insights into the AGXT gene and related diseases.
The GTR serves as a valuable tool for healthcare professionals, researchers, and individuals seeking information about genetic testing for the AGXT gene and its association with hyperoxaluria and related diseases. It helps facilitate access to reliable and up-to-date information on genetic testing and its implications in healthcare.
Scientific Articles on PubMed
PubMed is a catalog of scientific articles from various sources and authors. It provides a vast collection of information on a wide range of health-related topics, including genetic diseases and genes. In the context of the AGXT gene, PubMed offers valuable resources and articles for researchers and medical professionals.
One important study available on PubMed is “Genetic Changes in Primary Hyperoxaluria Type 1” by Harris et al. This article discusses the genetic changes in the AGXT gene that cause primary hyperoxaluria. It provides insights into the variations and mutations that can affect the alanine-glyoxylate aminotransferase (AGT) enzyme and lead to the development of this rare genetic disorder.
Another article, “Genetic Testing for Hyperoxaluria Type 1 Instead of Oxalosis” by Rumsby, highlights the importance of genetic testing for hyperoxaluria type 1 instead of relying solely on clinical manifestations and other tests. Genetic testing can provide accurate and early diagnosis, helping patients and their families better understand the condition and make informed decisions about their healthcare.
Additional articles on PubMed also discuss the genetic variants and changes in the AGXT gene that are associated with conditions other than primary hyperoxaluria. These studies explore the link between AGXT gene mutations and related diseases, providing valuable insights into the role of this gene in various health conditions.
For further information and references, researchers and healthcare professionals can access the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genes and genetic disorders, including primary hyperoxaluria and the AGXT gene. It is a valuable resource for obtaining detailed information on specific genetic variants, their clinical significance, and associated conditions.
In conclusion, PubMed offers a wealth of scientific articles on the AGXT gene, including studies on genetic changes, testing methods, and related health conditions. Researchers and healthcare professionals can utilize these resources to stay updated on the latest advancements and discoveries in the field of AGXT gene research.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic diseases. It provides primary information on genes, diseases, and their associated clinical features. OMIM is a valuable resource for researchers, clinicians, and genetic counselors.
OMIM is organized based on gene names, disease names, and additional catalog numbers. Each entry includes a concise summary of the gene or disease, as well as the primary scientific references and links to related databases such as PubMed.
One of the genes listed in the OMIM catalog is the AGXT gene. Mutations in this gene are associated with a rare genetic disorder called primary hyperoxaluria type 1 (PH1). PH1 is characterized by the accumulation of excessive amounts of a substance called oxalate, which can lead to the formation of kidney stones and other severe complications.
The OMIM entry for the AGXT gene provides detailed information about the gene structure, function, and the specific genetic changes that can cause PH1. It also includes a list of scientific references that have reported on the genetic testing and variant analysis for this gene.
In addition to the AGXT gene, the OMIM catalog contains information on many other genes and their associated diseases. The catalog is regularly updated with new information from scientific articles, clinical studies, and genetic testing laboratories.
Researchers and healthcare professionals can access the OMIM catalog online to search for specific genes or diseases of interest. The information provided in the catalog can aid in the diagnosis, research, and management of genetic conditions.
For more detailed information about a specific gene or disease listed in the OMIM catalog, researchers and healthcare professionals can refer to the primary scientific references and consult other available resources such as the Human Gene Mutation Database, GeneReviews, and the Genetic Testing Registry.
In summary, the OMIM catalog is a valuable resource that provides a comprehensive catalog of genes and genetic diseases. It contains primary scientific references, clinical information, and genetic testing data for a wide range of genes and conditions, including the AGXT gene and primary hyperoxaluria. Researchers and healthcare professionals can use this information to better understand the genetic basis of diseases and develop targeted treatments and prevention strategies.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and clinicians interested in studying and understanding genetic changes that can cause diseases. These databases compile information about genes, variants, and their associated diseases and provide a centralized repository for accessing this information.
One example of a gene and variant database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the genetic basis of primary hyperoxaluria, which is a rare genetic condition caused by changes in the AGXT gene. The database also includes references to scientific articles and additional resources for further reading.
Another resource for gene and variant information is the PubMed database, which contains a vast collection of scientific articles on various topics, including genetics. Researchers can use PubMed to search for articles related to the AGXT gene and its variants. This database can provide valuable insights into the genetic basis of diseases and the role of the AGXT gene in their development.
In addition to these databases, there are also specific variant databases available for certain genes or genetic conditions. For example, the Alanine-glyoxylate aminotransferase (AGXT) gene is associated with the development of primary hyperoxaluria. The Hyperoxaluria Gene Variant Database is a specialized resource that compiles information on genetic variants in the AGXT gene that cause primary hyperoxaluria. This database can be a valuable tool for researchers and clinicians studying this specific condition.
| Database | Description |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | A catalog of human genes and genetic conditions |
| PubMed | A database of scientific articles on various topics |
| Hyperoxaluria Gene Variant Database | A specialized resource for genetic variants in the AGXT gene associated with primary hyperoxaluria |
These gene and variant databases are important tools for researchers and clinicians in understanding the genetic basis of diseases. They provide a wealth of information on genes, variants, and their associated diseases, allowing for better diagnosis, testing, and treatment of patients.
References
- Rumsby G.,.[Hyperoxaluria carriers]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2017. PubMed PMID: 20301480.
- OMIM – Online Mendelian Inheritance in Man. Available from: https://www.omim.org/ (accessed March 6, 2022).
- Harris PC. Alanine-glyoxylate aminotransferase 2. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Molecular and Metabolic Basis of Inherited Disease. 8th edition. New York: McGraw-Hill; 2001. p. 3323-9.
- Registry of genes and genetic conditions. Available from: https://www.ncbi.nlm.nih.gov/gtr/ (accessed March 6, 2022).
- Publications on AGXT gene in PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=AGXT (accessed March 6, 2022).
- Testing for AGXT gene mutations. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/?term=AGXT (accessed March 6, 2022).
- Databases and other resources related to AGXT gene. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/848/?term=AGXT (accessed March 6, 2022).
- Primary hyperoxaluria. Available from: https://www.omim.org/entry/259900# (accessed March 6, 2022).
- Changes in the scientific names of genes related to the AGXT gene. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/848/?term=AGXT (accessed March 6, 2022).
- Additional information for AGXT gene testing. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/?term=AGXT (accessed March 6, 2022).
- Articles on AGXT gene and related conditions. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=AGXT (accessed March 6, 2022).