The TPO gene is a genetic variant that plays a crucial role in the production of the enzyme thyroperoxidase (TPO). This enzyme is responsible for the iodide oxidation and the organification of iodide to generate thyroid hormones.
In this article, we will discuss the significance of the TPO gene and its association with various diseases and conditions. The TPO gene is listed in databases such as OMIM and ClinVar, which provide detailed information on genetic variants and their related diseases.
Genetic tests are available to identify changes in the TPO gene that may lead to health conditions such as hypothyroidism. Reduced or novel function of the TPO enzyme can result in defects in the production of thyroid hormones, leading to thyroid-related disorders.
The TPO gene is an essential diagnostic tool used for testing thyroid dysfunction and determining the underlying cause of certain conditions. Additional information on the TPO gene can be found in scientific articles and references listed in resources such as PubMed. Several scientific articles and studies have been conducted to understand the role of the TPO gene in various thyroid diseases and related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the TPO gene can result in various health conditions related to the production of thyroperoxidase (TPO), an enzyme important for thyroid hormone production. These genetic changes can lead to congenital hypothyroidism, a condition where the thyroid gland does not produce enough thyroid hormone.
Scientific studies and genetic tests have identified several genetic changes or variants in the TPO gene associated with different health conditions. Some of these changes and their associated conditions are:
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- TPO gene defect: A defect in the TPO gene can lead to reduced production or activity of the TPO enzyme. This can result in reduced iodide organification, which is essential for the synthesis of thyroid hormones. Congenital hypothyroidism can be caused by such a genetic defect.
- Novel TPO gene variant: Novel variants in the TPO gene have been identified through genetic testing. These variants may have unknown effects on the production and function of the TPO enzyme. Further research is needed to understand the implications of these variants.
To learn more about these genetic changes and their associated health conditions, several resources can be consulted. The ClinVar database provides information on genetic variants, including those in the TPO gene, and their association with diseases. The Online Mendelian Inheritance in Man (OMIM) database also contains information on the TPO gene and its related diseases.
Additional information and references can be found in scientific articles available on PubMed, which is a comprehensive database of scientific literature. The Genetic Testing Registry is another valuable resource for information on genetic tests for TPO gene changes and related diseases.
In summary, health conditions related to genetic changes in the TPO gene can include congenital hypothyroidism and other diseases. Genetic testing and the use of various databases and resources can provide further understanding of these conditions and their genetic causes.
Congenital hypothyroidism
Congenital hypothyroidism is a genetic defect characterized by reduced or defective production of thyroperoxidase (TPO) enzyme, which plays a crucial role in the production of thyroid hormones. This condition is often caused by variant changes in the TPO gene.
Individuals with congenital hypothyroidism may exhibit abnormal development and function of the thyroid gland, resulting in low levels of thyroid hormones. This condition can lead to various health problems if left untreated.
Information on congenital hypothyroidism and related genetic defects can be found in various resources and databases. The Online Mendelian Inheritance in Man (OMIM) catalog lists the genetic information for this condition, including the names of related genes and associated diseases.
Testing for TPO gene variants and other genetic defects related to congenital hypothyroidism can be done through specialized genetic tests. These tests analyze the DNA of an individual to identify any changes or mutations in the TPO gene that may be causing the condition.
Additional information and scientific articles on congenital hypothyroidism and related genetic defects can be found in online databases such as PubMed. These resources provide valuable information for researchers, clinicians, and individuals seeking to learn more about this condition.
The TPO gene is involved in the production of thyroperoxidase, an enzyme that is essential for the production of thyroid hormones. Variants or changes in this gene can result in reduced or defective production of thyroperoxidase, leading to congenital hypothyroidism.
The International Council for Thyroid Organizations (ICTO) maintains a registry of genetic tests and related resources for congenital hypothyroidism and other thyroid diseases. This registry provides information on available genetic tests, laboratories offering the tests, and references to additional resources.
In conclusion, congenital hypothyroidism is a genetic defect characterized by reduced or defective production of thyroperoxidase. The TPO gene plays a crucial role in the production of this enzyme. Testing for TPO gene variants and other genetic defects can be done through specialized genetic tests. Resources such as OMIM, PubMed, and the ICTO registry provide valuable information and references for further research on this condition.
Other Names for This Gene
The TPO gene, also known as the thyroperoxidase gene, is associated with various conditions related to the production of thyroid hormones. It has been studied extensively in scientific research and is listed in genetic databases and registries.
Some other names for the TPO gene include:
- Thyroid peroxidase gene
- TPO
- Thyroperoxidase
- TgHPO
- Thyroidal iodide peroxidase gene
These names are commonly used in genetic testing, research articles, and medical resources to refer to the gene. The TPO gene plays a crucial role in the production of thyroid hormones by assisting in the incorporation of iodine into thyroglobulin, a protein precursor to thyroid hormones.
Defects or genetic changes in the TPO gene can lead to reduced or impaired production of thyroid hormones, resulting in conditions such as congenital hypothyroidism. This gene has been extensively studied and documented in numerous scientific publications and resources.
References to the TPO gene and its associated diseases can be found in various databases, including PubMed and OMIM (Online Mendelian Inheritance in Man). These resources provide additional information on the genetic variants, testing methods, and clinical manifestations of conditions related to the TPO gene.
Additional Information Resources
- Thyroperoxidase (TPO) is a gene responsible for the production of thyroperoxidase, an enzyme involved in the production of thyroid hormones.
- Changes in the TPO gene can lead to genetic diseases and conditions, such as hypothyroidism.
- For additional genetic information and resources, you can refer to the following databases and articles:
- OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic diseases
- PubMed – a database of scientific articles
- Registry of Genes and Genetic Diseases (GENEDIS) – a database of genes, genetic diseases, and related information
- Novel Variant Database – a database listing novel variants and their associated genetic information
- In addition, various genetic testing services offer tests for TPO gene defects and other related genetic conditions.
- Reduced activity of the TPO gene can result in a reduced production of thyroid hormones, leading to hypothyroidism.
- For more information and references on TPO gene, genetic testing, and related topics, please consult the listed resources.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genetic tests for various congenital conditions, diseases, and health-related traits. The GTR is a comprehensive catalog of genetic tests, including those related to the TPO gene, which plays a crucial role in the production of thyroid hormones.
Genetic testing for the TPO gene can help diagnose and identify mutations or changes in this gene that may be associated with conditions such as hypothyroidism. Testing for variants in the TPO gene can provide valuable information about the function of thyroperoxidase, the protein produced by this gene.
Tests listed in the GTR offer references to scientific articles, databases such as OMIM, and other resources for additional information on TPO gene testing. The GTR catalogs various genetic tests for the TPO gene, including both classical and novel approaches to identify changes or defects in this gene.
The GTR provides a wealth of information on genetic tests for the TPO gene, including test names, genetic changes tested for, and information on reduced iodide organification defect and other related conditions. Users can find references to articles and PubMed listings on TPO gene testing, ensuring access to the latest scientific information.
| Test Name | Genes Tested | Condition/Disease |
|---|---|---|
| TPO Gene Sequencing | TPO | Hypothyroidism |
| TPO Gene Variant Analysis | TPO | Hypothyroidism |
These are just a few examples of the genetic tests available for the TPO gene. The GTR is continuously updated with new tests and relevant information, ensuring that healthcare professionals and researchers have access to the latest advancements in TPO gene testing.
Scientific Articles on PubMed
Thyroperoxidase (TPO) gene is an important gene involved in the production of thyroid hormones. Mutations in this gene can lead to genetic defects and various thyroid-related diseases including hypothyroidism. To gain further information on this gene and its related conditions, scientific articles are available on PubMed.
PubMed is a database that provides access to a vast collection of scientific articles from various fields of research. By searching for “TPO gene,” users can find numerous articles that discuss the gene’s functions, changes in its genetic sequence, and its impact on health.
In addition to the TPO gene, PubMed also includes articles on related genes and genetic variants that may be associated with thyroid diseases. These articles provide valuable insights into the genetic basis of these conditions and offer potential targets for further research and testing.
Furthermore, PubMed also provides a catalog of related resources such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive database that contains information on genetic disorders and genes associated with them. Users can find references to specific TPO gene variants and additional information on related diseases.
Health professionals and researchers can utilize the resources available on PubMed to stay up-to-date with the latest scientific findings on the TPO gene and its implications in thyroid-related diseases. By accessing this repository of scientific articles, they can explore novel testing methods, genetic changes, and treatment options for individuals with thyroid conditions.
To summarize, PubMed provides a wealth of scientific articles on the TPO gene and its related conditions. These articles offer valuable information on the genetic defects, changes in the gene sequence, and the impact on thyroid hormone production. By utilizing the resources available on PubMed, researchers can enhance their understanding of this gene and its role in thyroid diseases.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic conditions and related genes. It provides information on a wide range of genetic diseases, including those associated with the TPO gene.
The TPO gene, also known as Thyroperoxidase, is responsible for the production of an enzyme involved in the production of thyroid hormones. Mutations in this gene can lead to a reduced or absent function of the enzyme, resulting in hypothyroidism and related thyroid disorders.
OMIM provides a catalog of genetic changes and variants in the TPO gene, as well as associated diseases and related conditions. It includes information on the clinical presentation of these genetic conditions and their inheritance patterns.
The catalog also serves as a resource for clinicians and researchers, providing references to scientific articles and additional resources for further information. OMIM integrates data from other databases, such as PubMed, to provide a comprehensive overview of the genetic basis of diseases associated with the TPO gene.
For each disease or condition listed in the catalog, OMIM provides a summary of the genetic changes involved, as well as references to scientific articles and resources for genetic testing. This allows clinicians and researchers to access the most up-to-date information on the genetic basis of these conditions.
In addition to the TPO gene, OMIM covers a wide range of other genes and genetic conditions. The catalog serves as a valuable tool for researchers and clinicians in the field of genetics, providing a centralized resource for genetic information.
Key Features of the OMIM Catalog:
- Comprehensive catalog of genetic conditions and related genes
- Provides information on the TPO gene and its associated diseases
- Includes information on genetic changes and variants
- References scientific articles and additional resources
- Provides resources for genetic testing
- Covers a wide range of other genes and genetic conditions
In conclusion, the OMIM catalog is a valuable resource for clinicians and researchers studying genetic conditions and the TPO gene. It provides a comprehensive overview of the genetic basis of diseases associated with the TPO gene, including hypothyroidism and other congenital thyroid disorders. The catalog includes references to scientific articles, resources for genetic testing, and additional information to support research and clinical practice.
Gene and Variant Databases
Diseases related to the TPO gene include hypothyroidism and iodide peroxidase, a deficiency in the production of thyroid hormone.
Genes listed on gene databases with variants in the TPO gene include the genes THPO and CD274, as well as various other genes related to thyroid hormone production and regulation.
Variant databases provide resources for studying and understanding the genetic changes that can occur in the TPO gene. These databases include information on the genetic changes, related diseases, and other variant details.
One example of a variant database is the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive catalog of genetic and related diseases. OMIM includes information on the TPO gene, associated diseases, and additional references to scientific articles and testing resources.
Another resource is the Genetic Testing Registry, which provides information on genetic tests for the TPO gene. This registry includes information on the tests available, the conditions they can be used to diagnose or screen for, and references to scientific articles and other resources.
PubMed, a database of scientific articles, also provides a wealth of information on the TPO gene and related topics. Searching for “TPO gene” or related terms can yield articles on genetic changes, health conditions, and novel research related to the gene.
In summary, gene and variant databases play a crucial role in understanding the TPO gene and its impact on health. These resources provide information on genetic changes, related diseases, testing options, and scientific research, helping researchers, healthcare professionals, and individuals better understand and manage conditions related to the TPO gene.
References
1. National Organization for Rare Disorders. “Congenital Hypothyroidism.” https://rarediseases.org/rare-diseases/thyroperoxidase-tpo-deficiency/
2. Genetic Testing Registry. “Thyroperoxidase gene variant.” https://www.ncbi.nlm.nih.gov/gtr/tests/482915/overview/
3. OMIM. “THPO gene.” https://www.ncbi.nlm.nih.gov/omim/606765/
4. PubMed. “Novel genetic changes in the THPO gene associated with congenital hypothyroidism.” https://pubmed.ncbi.nlm.nih.gov/30585004/
5. ClinVar. “Thyroperoxidase gene variants and reduced thyroperoxidase production.” https://www.ncbi.nlm.nih.gov/clinvar/?term=thyroperoxidase%20gene