The OAT gene, also known as the ornithine aminotransferase gene, is responsible for encoding the OAT enzyme. This enzyme plays a crucial role in the process of converting ornithine to a molecule called pyrroline-5-carboxylate. This conversion is important for maintaining the balance of amino acids in the body.
Excess or insufficient activity of the OAT enzyme can lead to various scientific conditions and diseases. One example is gyrate atrophy of the choroid and retina, which is a genetic disorder that affects the health of the retina and leads to progressive vision loss. Changes in the OAT gene have been linked to this condition.
Testing for OAT gene variants can provide valuable information for individuals with listed related conditions or those who may be at risk for them. There are several resources available, such as the Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM), which provide information on genetic tests and their results.
The PubMed database is another valuable resource for finding articles and references on the OAT gene and related genetic tests. These resources can provide additional information on the genetic changes associated with the OAT gene and the impact they may have on health.
In conclusion, the OAT gene plays a significant role in maintaining the balance of amino acids in the body. Changes in this gene can lead to various conditions and diseases, such as gyrate atrophy. Genetic testing can provide important information about an individual’s risk for these conditions and help guide treatment options.
Health Conditions Related to Genetic Changes
Genetic changes in the OAT gene can result in various health conditions. Some of the conditions related to these genetic changes are:
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- Excess of ornithine
- Gyrate atrophy
These conditions have been listed in scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man), which catalog genetic information on genes and variant changes related to diseases. Testing for genetic changes in the OAT gene and other genes can provide additional information on these health conditions.
The excess of ornithine is a condition where the balance of ornithine in the body is disrupted. This imbalance can lead to various health issues, including neurological symptoms and abnormalities in the eyes, such as damage to the choroid and retina.
Gyrate atrophy is a genetic disorder that affects the eyes and can result in vision loss. It is characterized by the progressive degeneration of the retina and can lead to blindness if left untreated.
To learn more about these health conditions and the genetic changes associated with them, additional resources and articles can be found through the use of PubMed, a database for scientific publications.
| Databases | OMIM |
|---|---|
| Genetic Testing | OAT gene testing |
| Scientific Publications | PubMed |
Gyrate atrophy of the choroid and retina
Gyrate atrophy of the choroid and retina is a genetic condition that affects the retina and leads to vision loss. It is caused by mutations in the OAT gene.
Testing for gyrate atrophy can provide important information about this condition. Genetic testing can identify mutations in the OAT gene that are related to gyrate atrophy. Other tests, such as an eye exam or imaging tests, can also detect changes in the choroid and retina.
There are databases and resources available that provide information on gyrate atrophy, as well as other genetic diseases. The OMIM database, for example, lists information about the OAT gene and its variants. PubMed, a scientific database, also has articles and references related to gyrate atrophy.
In addition to genetic testing and information from databases, there are other resources available for individuals with gyrate atrophy. Support groups and patient registries can provide additional support and information. These resources can help individuals and their families navigate the genetic testing process and find further assistance for managing the condition.
In conclusion, gyrate atrophy of the choroid and retina is a genetic condition that results in vision loss. Genetic testing, along with other tests and resources, can provide valuable information about this condition and help individuals and families make informed decisions about their health.
Other Names for This Gene
The OAT gene is also known by the following names:
- Genetic Testing Registry (GTR) ID: 407618
- Other Names for This Gene:
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For more information about this gene, you can visit the following resources:
- OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/entry/258870
- PubMed – scientific articles related to OAT gene: https://pubmed.ncbi.nlm.nih.gov/?term=OAT+gene
- Genetic Testing Registry (GTR) – for testing information, result databases, and other genetic resources: https://www.ncbi.nlm.nih.gov/gtr/genes/407618/
- Catalog of Genes and Diseases – for information on genes and genetic conditions: https://www.ncbi.nlm.nih.gov/sites/GeneTests/?db=GeneTests
- Additional References:
- Testing the balance of brain chemicals – excess results in companies databases
- Other genes involved in related diseases and changes in the brain
Additional Information Resources
Here are some additional resources that can provide more information about the OAT gene, related genetic tests, and associated conditions:
- OAT gene: This gene is also known as the ornithine aminotransferase gene. It is involved in the production of an enzyme called ornithine aminotransferase, which plays a crucial role in the breakdown of the amino acid ornithine.
- Genetic tests: Genetic testing can be performed to identify changes or variants in the OAT gene. These tests can help diagnose conditions such as gyrate atrophy of the choroid and retina.
- Gyrate atrophy of the choroid and retina: This is a rare genetic disorder that is caused by mutations in the OAT gene. It leads to excess accumulation of ornithine, resulting in damage to the retina and choroid. More information about this condition can be found in the OMIM database.
- OMIM database: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It contains information about the OAT gene, gyrate atrophy of the choroid and retina, and other related conditions.
- Scientific articles: There are scientific articles listed in PubMed that provide more detailed information about the OAT gene, associated conditions, and genetic testing.
- Genetic Testing Registry: This online resource provides information about genetic tests for various conditions, including those related to the OAT gene. It can help individuals and healthcare professionals find labs that offer genetic testing services.
- Other health databases: There are other health databases and resources that may contain information about the OAT gene, such as the National Institutes of Health’s (NIH) Genetic Testing Registry and the Human Gene Mutation Database (HGMD).
- Balance Canada: This organization provides support and information for individuals and families affected by inherited metabolic disorders, including gyrate atrophy of the choroid and retina. They also maintain a registry for genetic mutations related to these conditions.
- Genes and Diseases: This online catalog contains information about genes and their associated diseases. It includes information about the OAT gene and gyrate atrophy of the choroid and retina.
These resources can help individuals and healthcare professionals access more information about the OAT gene, genetic testing, and associated conditions. It is important to consult with healthcare professionals and genetic counselors for personalized and accurate information.
Tests Listed in the Genetic Testing Registry
Genetic Testing Registry provides a catalog of tests related to the OAT gene. These tests are designed to detect genetic changes or variants in the OAT gene that may be associated with certain diseases or conditions.
The OAT gene, also known as Ornithine Aminotransferase gene, provides instructions for making the enzyme ornithine aminotransferase. Variants in this gene can lead to a condition called gyrate atrophy of the choroid and retina. This condition is characterized by progressive vision loss and atrophy of the choroid and retina.
The Genetic Testing Registry lists various tests that can identify these genetic variants in the OAT gene. These tests can provide valuable information for the diagnosis and management of gyrate atrophy and other related conditions.
Additional scientific resources, such as OMIM and PubMed, also provide information on the OAT gene, its associated diseases, and the various tests available. These resources can help healthcare professionals and researchers stay updated on the latest advancements in genetic testing for OAT gene variants.
In addition to the OAT gene, the Genetic Testing Registry includes tests for other genetic changes and variants associated with excess amines and balance disorders. These tests are useful for the diagnosis and management of various health conditions.
The Genetic Testing Registry provides a comprehensive catalog of tests from various databases and sources. It is a valuable resource for healthcare professionals, researchers, and individuals interested in genetic testing and its application in healthcare.
| Resource | Description |
|---|---|
| OMIM | Online Mendelian Inheritance in Man – a comprehensive database of human genes and genetic disorders |
| PubMed | A database of scientific articles and publications |
| Genetic Testing Registry | A catalog of genetic tests and associated information |
Scientific Articles on PubMed
The OAT gene, also known as Ornithine Aminotransferase gene, is a gene that encodes for the enzyme ornithine aminotransferase. Mutations in this gene can result in various conditions, such as gyrate atrophy of the retina and choroid.
For more information on these genetic changes and related diseases, you can refer to the following resources:
- OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive database that provides information on genes and genetic conditions. It catalogs the names, descriptions, and testing information for various genetic disorders, including those related to the OAT gene.
- PubMed – PubMed is a widely used scientific database that provides access to a vast collection of scientific articles. You can search for articles on the OAT gene, gyrate atrophy, and other related topics to find additional scientific resources.
- The Genetic Testing Registry (GTR) – GTR is a database that provides information on genetic tests and testing laboratories. It includes information on tests for OAT gene variants and their associated diseases.
The excess of ornithine in the body due to OAT gene mutations can lead to the buildup of toxic metabolites, causing damage to the retina and choroid. This can result in the progressive degeneration of these tissues and can lead to vision loss.
Genetic testing for OAT gene mutations can be useful in diagnosing gyrate atrophy and other related conditions. These tests can help determine the specific genetic changes present in an individual and provide valuable information for managing their health.
Scientists continue to conduct research on the OAT gene and its role in various diseases. Many scientific articles have been published on this topic, providing further insights into the molecular mechanisms and potential treatment options for diseases associated with the OAT gene.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a wealth of information on various genetic conditions and their associated genes. Researchers and healthcare professionals can access this valuable resource to gain insights into the molecular basis of these diseases.
The catalog includes a wide range of genes that have been linked to different diseases. One such gene is the OAT gene, which is associated with gyrate atrophy of the choroid and retina. Mutations in this gene can lead to an excess of ornithine in the body, resulting in the degeneration of the retina and loss of vision.
In addition to the OAT gene, the catalog contains information on many other genes involved in various genetic diseases. These genes have been extensively studied and their role in disease development has been well-documented. Through OMIM, researchers can access scientific articles, references, and other resources related to these genes and the diseases they are associated with.
The catalog also provides information on genetic testing for these diseases. Healthcare providers can use this information to identify individuals at risk for certain genetic conditions and prescribe appropriate tests. Additionally, the catalog includes names and references of other databases and registries that provide additional resources and testing options for these genetic diseases.
OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic health. It serves as a comprehensive repository of information on genes and genetic diseases, allowing for better understanding of the underlying molecular changes and facilitating the development of effective diagnostic and treatment strategies.
Gene and Variant Databases
There are several gene and variant databases that provide valuable information on the OAT gene and its variants. These databases include:
- PubMed: PubMed is a well-known database that provides access to scientific articles and research papers related to the OAT gene and its variants. It is a reliable source of information for those who want to delve deeper into the subject.
- Catalog of Human Genes and Genetic Disorders (OMIM): This database lists the OAT gene and provides information on the genetic changes associated with it. It also includes information on other genes related to gyrate atrophy of the choroid and retina, as well as other genetic disorders.
- Genetic Testing Registry (GTR): GTR is a database that provides information on genetic tests available for the OAT gene and its variants. It includes information on the purpose of the test, the genes or variants tested, and the conditions for which the test is intended.
- ExAC Browser: The ExAC Browser provides information on the frequency of genetic variants in different populations. It can be useful to determine the prevalence of a specific variant in the general population.
- Retina International Gene Variant Database: This database specifically focuses on genes related to retinal diseases. It provides information on the OAT gene and its variants, as well as other genes associated with retinal conditions.
- Other Databases: In addition to the above-mentioned databases, there may be other scientific and genetic databases that contain information on the OAT gene and its variants. These databases can provide additional resources and references for further research.
It is important to consult these databases and resources when conducting research or testing for genetic conditions related to the OAT gene. They provide valuable information on gene variants, associated diseases, testing options, and other relevant data.
References
For additional information about testing, diseases related to the OAT gene, and the retina:
- There are several databases where you can find references to scientific articles related to the OAT gene, such as PubMed and OMIM.
- These databases have a catalog of genetic changes and variant names associated with the OAT gene.
- The Health Resources and Services Administration (HRSA) provides a registry of genetic testing resources.
- Information on the testing, conditions, and genes related to OAT gene can be found on the HRSA website.
- The Genetic Testing Registry (GTR) also provides information on genetic tests for OAT gene and other related conditions.
- Gyrate atrophy of the choroid and retina is one of the diseases associated with changes in the OAT gene.
- OMIM provides information on the genetic changes and variant names associated with gyrate atrophy and other related conditions.