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The DUOX2 gene, also known as dual oxidase 2, is related to the production of hydrogen peroxide (H2O2). It is primarily expressed in the thyroid gland, where it plays a crucial role in generating H2O2, a reactive oxygen species. DUOX2 is necessary for the synthesis of thyroid hormones, and any changes or mutations in this gene can lead to congenital hypothyroidism.

The DUOX2 gene is listed in various genetic testing resources and databases such as OMIM and ClinVar. According to the Forteza et al. scientific article published in the American Journal of Physiology, the levels of DUOX2 gene expression in the thyroid gland are critical for the production of thyroid hormones and the regulation of thyroid function.

Several conditions and diseases have been associated with changes in the DUOX2 gene, including congenital hypothyroidism. Research studies have identified different variants of the DUOX2 gene in individuals with hypothyroidism. Additional information and references on this gene can be found on PubMed and other scientific articles.

Genetic changes in the DUOX2 gene can result in various health conditions. These changes can be identified through genetic testing and can provide valuable information for diagnosis and treatment.

One health condition related to genetic changes in the DUOX2 gene is congenital hypothyroidism. DUOX2 gene variants can lead to reduced levels of thyroid hormones, which are essential for proper growth and development. Testing for DUOX2 gene variants can help diagnose and manage congenital hypothyroidism.

Another health condition related to genetic changes in the DUOX2 gene is reduced peroxidase activity. DUOX2 gene variants can result in the production of DUOX2 enzymes with reduced peroxidase activity. This can lead to impaired production of thyroid hormones and contribute to hypothyroidism. Testing for DUOX2 gene variants can help identify individuals with reduced peroxidase activity.

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References in the scientific literature and databases such as PubMed and the Online Mendelian Inheritance in Man (OMIM) database can provide additional information on genetic changes in the DUOX2 gene and their association with specific health conditions. These resources can generate a catalog of genes, enzymes, and conditions related to DUOX2 gene changes.

The DUOX2 gene is known to be involved in the generation of hydrogen peroxide, which is essential for the synthesis of thyroid hormones. Changes in the DUOX2 gene can affect the production of hydrogen peroxide and subsequently impact thyroid hormone levels.

Genetic testing for DUOX2 gene variants can be conducted to identify individuals at risk for related health conditions. These tests can help in the early detection and management of conditions such as congenital hypothyroidism.

In addition to testing for DUOX2 gene variants, it is important to consider other genetic factors and hormones that may contribute to health conditions. The levels of other enzymes, such as NADPH oxidases, can also affect thyroid hormone synthesis and function.

The DUOX2 gene and its associated health conditions are listed in various genetic disease registries and databases. These resources provide comprehensive information on the genetic changes, associated conditions, and available testing options for DUOX2 gene variants.

In summary, genetic changes in the DUOX2 gene can lead to various health conditions, including congenital hypothyroidism and reduced peroxidase activity. Testing for DUOX2 gene variants can help identify individuals at risk and facilitate early detection and management of these conditions. Additional information on genetic changes in the DUOX2 gene and related health conditions can be found in scientific literature, databases, and genetic disease registries.

Congenital hypothyroidism

Congenital hypothyroidism is a condition that affects the thyroid gland, leading to reduced levels of thyroid hormones in the body. It is one of the most common endocrine disorders in newborns.

This condition can be caused by genetic changes in certain genes, including the DUOX2 gene. DUOX2 is involved in the production of hydrogen peroxide, which is necessary for the synthesis of thyroid hormones. Mutations in the DUOX2 gene can result in reduced or absent enzyme activity, leading to congenital hypothyroidism.

Information on the DUOX2 gene and its association with congenital hypothyroidism can be found in various scientific databases and resources. One such resource is OMIM (Online Mendelian Inheritance in Man), which catalogues the genetic conditions and genes associated with them. OMIM provides detailed information on the DUOX2 gene, including its function and the specific genetic changes that can cause congenital hypothyroidism.

See also  TPO gene

In addition to OMIM, other databases such as PubMed can be used to access scientific articles related to the DUOX2 gene and congenital hypothyroidism. These databases provide a wealth of information on the role of DUOX2 and other genes in the development of this condition.

Testing for congenital hypothyroidism typically involves measuring thyroid hormone levels in the blood. If low levels of thyroid hormones are detected, further genetic testing may be performed to identify any underlying genetic changes, including those in the DUOX2 gene.

Understanding the genetic basis of congenital hypothyroidism is important for diagnosis and treatment of this condition. By identifying the specific genetic changes responsible for the disease, healthcare professionals can tailor their treatment strategies to better manage the symptoms and optimize the patient’s health.

Overall, the DUOX2 gene plays a critical role in the development of congenital hypothyroidism. Further research and genetic testing will help uncover additional information about the gene and its associated changes.

Other Names for This Gene

This gene is also known by several other names:

  • DUOX2
  • Thyroperoxidase-related iodide peroxidase
  • Thyroid peroxidase 2
  • Iodide peroxidase
  • Peroxidase DUOX2 antibody
  • Thyroid oxidase 2
  • DUOXV
  • DUOXA

These names are used in scientific articles and databases to refer to this gene. The DUOX2 gene plays a role in the production of hydrogen peroxide, which is important for the thyroid’s production of thyroid hormones. Changes in this gene can lead to hypothyroidism, a condition where the thyroid does not produce enough hormones.

Testing for changes in the DUOX2 gene can be done to determine the genetic cause of hypothyroidism. Information about this gene and related conditions can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Additional information about this gene and related genes can be found in the DUOX2 GeneReviews article on the National Center for Biotechnology Information (NCBI) website. This article provides a comprehensive overview of the gene, including its function, genetic variants, and associated diseases.

Furthermore, the DUOX2 gene is listed in genetic testing registries that catalog genes associated with specific conditions. These registries provide resources for individuals and healthcare providers seeking information about genetic testing options and the clinical utility of tests.

References and articles related to the DUOX2 gene can be accessed through online databases such as PubMed. These resources offer scientific literature and research findings on the gene’s role in thyroid physiology, genetic changes, and enzyme activity levels.

In summary, the DUOX2 gene, also known by several other names, is involved in producing hydrogen peroxide necessary for thyroid hormone production. Changes in this gene can lead to hypothyroidism. Scientific resources, such as OMIM and PubMed, provide information about this gene, its genetic variants, and related diseases. Genetic testing registries and databases offer additional information and references for healthcare providers and individuals interested in this gene and its role in health conditions.

Additional Information Resources

For additional information on the DUOX2 gene and related topics, the following resources can be helpful:

  • PubMed: Listed here are scientific articles published in peer-reviewed journals that discuss topics related to the DUOX2 gene. PubMed is a comprehensive database of scientific literature.
  • OMIM: Omni Gene (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information on the DUOX2 gene and its variant forms, as well as related diseases.
  • Gene Testing Registry: This resource provides information about genetic tests available for the DUOX2 gene. It includes details such as test names, test methods, and laboratories offering the testing services.
  • Hypothyroidism Information Resources: These resources focus specifically on hypothyroidism, a condition related to changes in DUOX2 gene levels. They provide information on the causes, symptoms, diagnosis, and treatment options for hypothyroidism.
  • Enzyme-related Resources: DUOX2 is an enzyme that produces hydrogen peroxide necessary for thyroid hormone synthesis. Enzyme-related resources offer information about other enzymes involved in this process, as well as their roles and functions within the thyroid gland.
  • Health Databases: Various health databases compile information on DUOX2 and its role in human health. These databases often cover a wide range of topics, including the physiological functions and NADPH oxidase activity associated with DUOX2.

Consulting these resources can provide you with a wealth of information on the DUOX2 gene, its variants, related diseases like hypothyroidism, and the scientific advances in this field.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in determining the presence of changes or variants in the DUOX2 gene. These tests are listed in the Genetic Testing Registry (GTR), a valuable resource that provides information on various genetic tests and the conditions they are associated with.

The DUOX2 gene is responsible for encoding the dual oxidase 2 enzyme. This enzyme plays a key role in the production of hydrogen peroxide, which is essential for the synthesis of thyroid hormones. Changes or variants in the DUOX2 gene can lead to reduced levels of enzyme activity, resulting in congenital hypothyroidism.

See also  RUNX1 gene

Testing for DUOX2 gene variants can be performed using various methods, including sequencing and mutation analysis. The GTR lists several tests that are capable of detecting changes in this gene. These tests generate important information regarding the presence of variants and their potential associations with specific diseases or conditions.

The GTR provides additional resources related to the DUOX2 gene and its associated conditions. It offers access to scientific articles, references, and databases such as PubMed and OMIM, which contain relevant information on DUOX2 and related genes.

Furthermore, the GTR includes a catalog of diseases and conditions that are linked to DUOX2 gene variants. This catalog provides clinicians and researchers with comprehensive information on the potential effects of different variants and their implications for patient care.

In summary, the Genetic Testing Registry serves as a valuable tool for clinicians and researchers involved in the assessment of DUOX2 gene variants. With its extensive collection of tests and resources, it allows for accurate diagnosis and management of inherited conditions such as congenital hypothyroidism.

Scientific Articles on PubMed

PubMed is a well-known online database that provides access to a vast collection of scientific articles. It is a valuable resource for researchers and healthcare professionals to find relevant information on various topics, including genes and diseases.

One gene that is of particular interest is the DUOX2 gene. Mutations in this gene have been associated with hypothyroidism, a condition where the thyroid gland does not produce enough hormones. PubMed is a great platform to find articles related to the DUOX2 gene and its role in various diseases.

In PubMed, you can generate a list of scientific articles by searching for keywords such as “DUOX2 gene” or “hypothyroidism.” This will provide you with a comprehensive catalog of articles listed in the database.

Several articles in PubMed discuss the enzymes encoded by the DUOX2 gene and their functions in different conditions. These articles provide important insights into the role of this enzyme in maintaining thyroid health and its potential involvement in disease.

For additional resources, the Online Mendelian Inheritance in Man (OMIM) database is a valuable source of information on genetic conditions. OMIM provides detailed information on genes, including DUOX2, and their associated diseases.

Furthermore, the Human Gene Mutation Database (HGMD) is another useful resource that lists genetic variants and their impact on gene function. This database can help researchers and healthcare professionals understand the implications of DUOX2 gene changes.

In PubMed, you can also find articles on the physiology of the DUOX2 gene and its enzymes, their role in the gastrointestinal tract, and other related topics. These articles provide in-depth information on the molecular mechanisms and functions of DUOX2.

Testing for genetic variants in the DUOX2 gene and related enzymes can be performed through specialized laboratories. These tests can help diagnose congenital hypothyroidism and other genetic conditions related to the DUOX2 gene.

Reduced levels of enzymes encoded by the DUOX2 gene can lead to impaired peroxide production, affecting the synthesis of thyroid hormones. Scientific articles on PubMed discuss these changes and their impact on thyroid health.

In conclusion, PubMed is a valuable resource for researchers and healthcare professionals seeking scientific articles on the DUOX2 gene and its role in hypothyroidism and other related conditions. The database provides a wealth of information and references that contribute to our understanding of the genetic and physiological aspects of this gene.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive registry of genes and diseases. It provides information on the levels of enzymes, hormones, and other related factors that are involved in various conditions. One of the genes listed in OMIM is the DUOX2 gene, which plays a crucial role in the generation of hydrogen peroxide in the thyroid gland.

The DUOX2 gene is associated with a condition known as congenital hypothyroidism. This condition is characterized by reduced levels of thyroid hormones, which can lead to impaired growth and development. Genetic testing for variants in the DUOX2 gene can be performed to identify individuals at risk for this condition.

The OMIM database also contains additional information on other genes and diseases related to DUOX2 and hypothyroidism. Scientific articles and references from PubMed and other resources are listed for further reading.

Some of the enzymes and factors related to DUOX2 and hypothyroidism include NADPH and peroxide. These play important roles in the physiological processes of the thyroid gland, and any changes in their function can lead to health problems.

In summary, the OMIM database provides a comprehensive catalog of genes and diseases, including the DUOX2 gene and related conditions such as hypothyroidism. It is a valuable resource for researchers and clinicians to access scientific information and references on these topics.

Gene and Variant Databases

In the field of scientific research and genetic testing, databases play a crucial role in storing and organizing information related to genes and genetic variants. These databases provide a valuable resource for researchers, clinicians, and other healthcare professionals to access up-to-date information about specific genes and variants, as well as their associated diseases and conditions.

See also  Kaufman oculocerebrofacial syndrome

One of the most widely used genetic databases is OMIM (Online Mendelian Inheritance in Man), which catalogs information about genes and genetic conditions. It provides detailed summaries of genes and their associated disorders, along with references to scientific articles and other relevant resources. In the case of the DUOX2 gene, OMIM lists it as the gene responsible for congenital hypothyroidism with or without goiter, a condition characterized by reduced levels of thyroid hormones.

Another important database is PubMed, a comprehensive repository of scientific articles. Researchers and healthcare professionals can search for articles related to the DUOX2 gene, its variants, and their impact on health. PubMed allows users to access the latest research and clinical findings, helping them stay informed about current developments in the field.

In addition to these general databases, there are also specialized databases focused specifically on genes and genetic variations. These databases include ClinVar, which provides information on the clinical significance of genetic variants, and the DUOX2 Variant Registry, which specifically focuses on variants in the DUOX2 gene. These databases provide additional resources and references for researchers and clinicians conducting studies and testing related to DUOX2 variants.

The DUOX2 gene encodes an enzyme called dual oxidase 2, which plays a crucial role in the production of hydrogen peroxide in the thyroid gland. Changes in the DUOX2 gene can lead to dysfunction of these enzymes, resulting in conditions such as congenital hypothyroidism with or without goiter. Genetic testing can identify specific variants in the DUOX2 gene, helping in the diagnosis and management of these conditions.

Overall, gene and variant databases are vital tools in the field of genetics and genomics. They provide a centralized and accessible platform for researchers and healthcare professionals to find information about genes, variants, and associated diseases. With the continuous advancement of scientific knowledge, these databases are constantly updated to ensure that the latest research and findings are available to support further research and improve patient care.

References

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