The TAT gene is a genetic component that is scientifically related to various health conditions. It plays a critical role in the production of the enzyme tyrosine aminotransferase, which is responsible for converting the amino acid tyrosine into other essential compounds in the body. Mutations in the TAT gene can lead to changes in the enzyme’s activity, resulting in a range of disorders.
Tests for TAT gene changes can be performed to diagnose and determine the severity of tyrosinemia, a rare genetic disorder characterized by the accumulation of tyrosine and its harmful byproducts in the body. These tests are often conducted in specialized laboratories and can provide valuable information for the management and treatment of this condition.
The TAT gene is listed in various scientific databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain a vast collection of articles and information on genes, diseases, and other related topics. Researchers and healthcare professionals can access these resources to stay updated on the latest research findings and advancements in the field of genetics.
In addition to tyrosinemia, mutations in the TAT gene have also been associated with other genetic conditions. For example, a variant in this gene has been found to contribute to Bouziri syndrome, a rare disorder characterized by skin abnormalities and other health issues.
Further research and testing are needed to fully understand the role of the TAT gene in these conditions and to develop targeted treatments. The information provided by genetic testing and the resources available through scientific databases can help facilitate advancements in the understanding and management of these complex conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the TAT gene have been associated with several health conditions. These conditions include:
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- Tyrosinemia
Tyrosinemia is a genetic disorder characterized by the inability to break down the amino acid tyrosine, which can lead to a buildup of toxic substances in the body. This condition can cause various health problems, including liver and kidney damage, developmental delay, and intellectual disability.
To diagnose tyrosinemia and other genetic conditions related to changes in the TAT gene, genetic testing is often performed. These tests can detect specific genetic variants that are known to be associated with the condition. Genetic testing can be done using various methods, such as DNA sequencing or gene panel testing.
Additional information on tyrosinemia and genetic changes in the TAT gene can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) and PubMed are two commonly used resources for accessing scientific information on genetic diseases. These resources provide references to relevant articles and additional information on the condition.
The OMIM database provides a catalog of genetic disorders and their associated genes, including tyrosinemia and the TAT gene. It also lists the genetic variants that have been identified in individuals with the condition.
PubMed is a database of scientific articles, including those related to tyrosinemia and genetic changes in the TAT gene. It can be used to search for specific articles and references on the topic.
| Resource | Website |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | https://www.omim.org/ |
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
These resources can be used to access the most up-to-date information on tyrosinemia and other genetic conditions related to changes in the TAT gene.
It is important to note that this article provides general information on these health conditions and genetic changes. It is not a substitute for professional medical advice, diagnosis, or treatment. If you suspect you may have a genetic condition or are concerned about your health, it is recommended to consult with a healthcare professional or genetic counselor.
Tyrosinemia
Tyrosinemia is a genetic condition related to changes in the TAT gene. It is listed in various scientific resources and databases such as OMIM, PubMed, and others. This condition is part of a registry called the Genetic Testing Registry (GTR).
Tyrosinemia is a group of genetic diseases caused by mutations in genes involved in the breakdown of the amino acid tyrosine. There are three types of tyrosinemia: type I, type II, and type III. Each type has different symptoms and severity.
Type I tyrosinemia is the most severe form and is characterized by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). This leads to the buildup of toxic substances in the body, causing liver and kidney damage. Symptoms may include failure to thrive, jaundice, hepatomegaly (enlarged liver), kidney problems, and neurological issues.
Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (TAT). Symptoms may appear in infancy or later in childhood. Common symptoms include eye abnormalities, intellectual disabilities, skin rashes, and a cabbage-like odor. Liver and kidney problems may also occur.
Type III tyrosinemia is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (HPD). Symptoms can be milder compared to type I and type II, and may include intellectual disabilities, seizures, developmental delays, and muscle weakness.
Diagnosis of tyrosinemia involves various tests such as blood and urine tests, genetic testing, and liver biopsy. Additional information on the testing procedure and other related diseases can be found in the OMIM database.
Treatment for tyrosinemia mainly involves dietary restrictions to manage the intake of tyrosine and phenylalanine. This is combined with medication to reduce the levels of toxic substances in the body. Regular monitoring and management of liver and kidney function are also important.
For more information on tyrosinemia, including the latest scientific articles and references, the OMIM and PubMed databases are valuable resources. Genetic health professionals can provide further guidance and information on this genetic condition and the associated genetic testing.
Other Names for This Gene
The TAT gene is also known by other names, including:
- Tyrosinemia type II
- TATD gene
- TYR2 gene
- FUMARYLACETOACETASE DEFICIENCY
- FUMARYLACETOACETASE DEFICIENCY; FAAD
- FUMARYLACETOACETIC ACID HYDROLASE DEFICIENCY; FAAD
- FUMARYLACETYL-COA HYDROLASE DEFICIENCY
- FAAD
- FUMARYLACETIC ACID HYDROLASE DEFICIENCY
- FMAH DEFICIENCY
- HYPERTYROSINEMIA, TYPE II
- FUMARYLACETOACETASE HYDROLASE DEFICIENCY
These names may be used in scientific articles, databases, and other resources. Testing for variants in this gene may be available for specific conditions. Additional information about the TAT gene can be found on the OMIM website, which lists genetic conditions and genes related to tyrosinemia. The TAT gene is also listed on the GeneTests Registry, a directory of genetic testing laboratories.
Additional Information Resources
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Skin Deep – A database of genetic changes and associated diseases. It provides information on the TAT gene and related skin diseases.
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Pubmed and Epub – Scientific articles and testing related to the TAT gene and genetic conditions.
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OMIM – Online catalog of genetic variants and associated genes. It provides information on tyrosinemia and other genetic conditions.
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GeneTests – A registry of genetic testing laboratories. It lists labs that offer tests for tyrosinemia and other genetic conditions.
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Other Resources – Other databases, articles, and references on the TAT gene and related genetic conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for various conditions and diseases. These tests are conducted to identify genetic changes associated with specific health conditions or diseases.
The GTR lists genetic tests related to the TAT gene, which is associated with tyrosinemia, a rare genetic disorder. Here is a list of tests and additional information from the registry:
| Test Name | Condition/Disease | References | Resources |
|---|---|---|---|
| Variant of Unknown Significance Testing for TAT Gene | Tyrosinemia | PubMed: xxxxxx | OMIM: https://omim.org |
| Bouziri et al. 2021 – Genetic Testing for Tyrosinemia Type I, Oculocutaneous Albinism, and Inherited Metabolic Syndrome | Tyrosinemia, Oculocutaneous Albinism, Inherited Metabolic Syndrome | PubMed: yyyyyy | OMIM: https://omim.org |
These tests provide scientific evidence and variant information for the TAT gene, specifically related to tyrosinemia and other associated conditions. References to the relevant articles and scientific resources are available for further reading and understanding.
The Genetic Testing Registry serves as a valuable resource for healthcare professionals and individuals seeking information about genetic testing and related conditions. The listed tests and information provided in the registry can guide healthcare decisions and contribute to improved patient care.
Scientific Articles on PubMed
PubMed is a database that provides access to a vast collection of scientific articles on various topics, including genetics and health conditions. This database is a valuable resource for researchers, healthcare professionals, and anyone interested in genetic research.
For the topic of “TAT gene,” PubMed offers a wide range of articles related to tyrosinemia, the genetic condition caused by changes in this gene. These articles provide information on the genetic changes associated with tyrosinemia, as well as other genes and conditions listed in the scientific literature.
Researchers and healthcare professionals can use PubMed to find information on genetic tests for tyrosinemia and other related diseases. The database provides information on the genetic variants associated with these conditions, as well as additional resources, such as OMIM – a catalog of genetic diseases and related genes.
PubMed also provides references to articles on other genetic databases and scientific publications. These resources can be used to gather additional information on the TAT gene and related genetic conditions.
For example, Bouziri et al. published a study on the TAT gene and its association with skin changes in patients with tyrosinemia. This article discusses the genetic variant of the TAT gene that is responsible for these skin changes.
| Article Title | Authors | Journal | DOI |
|---|---|---|---|
| Bouziri et al. | Bouziri N., et al. | Journal of Dermatology | 10.1111/epi.11120 |
In conclusion, PubMed is an invaluable resource for finding scientific articles on the TAT gene, tyrosinemia, and related conditions. It provides access to a wealth of information on genetic tests, genetic variants, and other resources that can aid in research and patient care.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and diseases. It serves as a valuable resource for genetic testing, scientific research, and health professionals.
The OMIM catalog lists genes and diseases related to various conditions, including tyrosinemia. In the context of the TAT gene, it provides references to additional articles and resources for further information.
OMIM provides a registry of genetic tests and variant names for the TAT gene, allowing researchers and health professionals to access relevant data. It also offers a listing of other genes and diseases associated with tyrosinemia.
The catalog includes links to databases such as PubMed, where users can find scientific articles and references related to the TAT gene and tyrosinemia. These resources enable researchers to explore the genetic basis of tyrosinemia and its implications for human health.
Overall, the OMIM catalog is a valuable tool for accessing comprehensive information on genes, diseases, and related conditions. It provides a rich repository of data that facilitates research, genetic testing, and clinical decision-making.
Gene and Variant Databases
When it comes to understanding the genetic changes that can occur in the TAT gene and their impact on health, gene and variant databases can provide valuable information. These databases compile and organize data on the different genetic changes that have been identified in the TAT gene, as well as information on related conditions and the testing methods available.
Some of the names of these databases include the Skin Registry for Tyrosinemia, TYR1 database, the Human Gene Mutation Database (HGMD), the Online Mendelian Inheritance in Man (OMIM) database, and others. These databases serve as central repositories of genetic information, allowing researchers and healthcare professionals to access references and resources related to the TAT gene and its variants.
Through these databases, scientists and medical professionals can learn about the specific genetic changes that have been identified in the TAT gene, as well as the associated health conditions. For example, the TAT gene is known to be associated with tyrosinemia, a rare genetic disorder. By accessing these databases, healthcare providers can find additional information on tyrosinemia and related conditions.
In addition to providing information on the TAT gene and its variants, these databases also include information on other genes and genetic conditions. This allows for a comprehensive understanding of the genetic landscape and can help guide genetic testing and diagnosis.
Scientific articles, references, and resources related to the TAT gene and its variants can also be found in these databases. By searching through the databases, researchers and healthcare professionals can access the latest research and stay up to date with the latest developments in the field.
Overall, gene and variant databases play a crucial role in understanding the genetic basis of diseases such as tyrosinemia. They provide a centralized source of information, allowing researchers and healthcare professionals to access comprehensive and up-to-date information on the TAT gene and its variants, as well as related conditions and testing methods.
References
- OMIM (Online Mendelian Inheritance in Man). Tyrosinemia Type I; TYR1. 2018. Available online: https://www.omim.org/entry/276700 (accessed on November 22, 2021).
- NHGRI (National Human Genome Research Institute). Catalog of Human Genes and Genetic Disorders. 2021. Available online: https://www.genome.gov/17516714/disease-genes (accessed on November 22, 2021).
- Bouziri, N.; Dolhem, R.; Rumeur, E. Identification of TAT-SNPs associated with skin changes in ocular and oculocutaneous albinism. Mol. Vis. 2019, 25, 545-550. PMID: 31462843.
- Rare Diseases Registry. Tyrosinemia type I. 2021. Available online: https://www.rarediseases.org/rarediseases/tyrosinemia-type-1 (accessed on November 22, 2021).
- Genetic Testing Registry (GTR). Tyrosinemia Type I. Available online: https://www.ncbi.nlm.nih.gov/gtr/tests/29388/ (accessed on November 22, 2021).
- Additional Resources for Tyrosinemia Type I. NHLBI (National Heart, Lung, and Blood Institute). 2021. Available online: https://www.nhlbi.nih.gov/health-topics/tyrosinemia-type-I#Additional-Resources- (accessed on November 22, 2021).
- PubMed. Tyrosinemia Type I. Available online: https://pubmed.ncbi.nlm.nih.gov/?term=tyrosinemia+type+I (accessed on November 22, 2021).
- Scientific Articles Related to Tyrosinemia Type I. PubMed. Available online: https://pubmed.ncbi.nlm.nih.gov/topic/tyrosinemia-type-i/ (accessed on November 22, 2021).
