ATP7B gene

The ATP7B gene is a part of the copper-transporting ATPase family of genes and enzymes. It is primarily involved in the removal and transport of copper within the body. Mutations in this gene can lead to Wilson disease, a genetic disorder characterized by the accumulation of copper in various tissues and organs. Wilson disease is a rare autosomal recessive disorder that affects both men and women.

ATP7B gene mutations cause changes in the production and function of the ATP7B protein, resulting in impaired copper transport and the build-up of copper in the liver and other tissues. This can lead to liver disease, neurological problems, and other symptoms associated with Wilson disease.

Testing for mutations in the ATP7B gene is available and can be used to confirm a diagnosis of Wilson disease. Additional tests, such as blood and urine tests, are often performed to measure copper levels and assess liver and neurological function.

Information about the ATP7B gene and Wilson disease can be found in various databases and resources, including the Online Mendelian Inheritance in Man (OMIM) and PubMed. The OMIM database provides comprehensive information on genetic conditions, including Wilson disease, while PubMed offers a collection of scientific articles and references related to the disease.

The ATP7B gene is listed in the NCBI Gene database, which provides detailed information on genes and their variants. The NCBI Gene database also includes links to other resources and databases that may be useful for further research on Wilson disease, such as the Genetic Testing Registry and the Copper-Transporting ATPase Diseases Catalog.

In conclusion, the ATP7B gene plays a critical role in copper transport and its mutations can lead to Wilson disease. Genetic testing for mutations in this gene can confirm a diagnosis of the disease, while additional tests can assess the severity and progression of the condition. Various resources and databases provide valuable information and references on Wilson disease for healthcare professionals and researchers.

Health Conditions Related to Genetic Changes

Genetic changes in the ATP7B gene are associated with several health conditions. One of the most well-known conditions related to these genetic changes is Wilson disease. Wilson disease is an autosomal recessive disorder that affects the body’s ability to regulate copper levels. When the ATP7B gene is affected by genetic changes, it leads to impaired copper transport and the accumulation of copper in various tissues and organs.

Individuals with Wilson disease may experience a wide range of symptoms, including liver disease, neurological problems, and psychiatric disorders. Early detection and diagnosis of Wilson disease are crucial for effective treatment and management of the condition.

In addition to Wilson disease, genetic changes in the ATP7B gene can also lead to other related conditions. These conditions may have different names and variations depending on the specific genetic changes involved. Testing and databases such as the Online Mendelian Inheritance in Man (OMIM) and PubMed can provide more information on the specific conditions associated with genetic changes in the ATP7B gene.

Articles and scientific resources related to the ATP7B gene and its associated conditions can be found in various scientific journals and databases. These resources provide valuable information on the symptoms, diagnosis, and management of these conditions. They also offer insights into ongoing research and potential treatment options.

The ATP7B gene belongs to a family of genes known as copper-transporting P-type ATPases. Other genes in this family may also be related to health conditions. Genetic changes in these genes can impact the function of copper-transporting proteins and enzymes responsible for copper removal from the body.

Given the complexity of these genetic changes and their effects on health, it is important for individuals affected or at risk of these conditions to consult with healthcare professionals experienced in genetic testing and counseling. These professionals can provide guidance and support in navigating the available resources and conducting appropriate genetic testing.

Overall, genetic changes in the ATP7B gene and related genes can result in various health conditions, with Wilson disease being a prominent example. Understanding the genetic basis of these conditions and accessing resources and information can aid in their diagnosis, management, and ongoing research.

Wilson disease

Wilson disease is a genetic disorder that affects copper-transporting beta ATPase, which is encoded by the ATP7B gene. This gene plays a crucial role in the removal of excess copper from the body. The disease is part of a group of genes listed on OMIM (Online Mendelian Inheritance in Man), which is a catalog of human genes and genetic disorders.

Wilson disease is characterized by the accumulation of copper within the body, leading to copper toxicity. The ATP7B gene mutations result in impaired copper transport and elimination, causing copper to build up in various tissues and organs, particularly the liver and brain.

Diagnosing Wilson disease usually involves genetic testing to identify mutations in the ATP7B gene. Genetic testing can confirm the presence of mutations or changes in the gene that are known to be associated with the disease. This information can help healthcare providers make an accurate diagnosis of Wilson disease.

Additional tests, such as blood tests and imaging studies, may also be used to evaluate liver function and check for signs of copper accumulation in other parts of the body. These tests can help confirm the diagnosis and assess the severity of the disease.

For scientific articles and resources related to Wilson disease, PubMed and OMIM are valuable databases. PubMed provides access to a vast collection of scientific articles and research papers, while OMIM is a comprehensive registry of genes and genetic conditions.

References to other databases and resources may also be found within articles and websites related to Wilson disease. These include genetic variant databases, enzyme databases, and disease-specific registries. They can provide additional information about specific gene variants, affected enzymes, and associated diseases.

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Overall, understanding the genetic basis of Wilson disease and utilizing scientific resources can aid in its diagnosis, treatment, and management. By identifying mutations in the ATP7B gene and understanding how they affect copper transport, healthcare providers can develop targeted therapies and interventions for individuals with Wilson disease.

Other Names for This Gene

ATP7B gene is also known by the following names:

  • copper-transporting ATPase 2
  • WD repeat-containing protein 4
  • chaperone protein involved in beta disease
  • ATP7B copper transporting ATPase
  • Menkes’ disease-associated ATPase
  • P-type ATPase domain-containing protein 7B
  • EC 3.6.3.4
  • Copper pump 2
  • Truncated Wilson’s disease protein
  • ATPase, Cu(2+) transporting, beta polypeptide
  • ATPase, Cu(2+)-transporting, beta polypeptide

These other names are listed in databases and genetic testing resources, making them useful for finding additional information on this gene. They are also used in scientific articles and research papers related to Wilson’s disease and other health conditions affected by ATP7B gene changes.

For more information on ATP7B gene and related diseases, you can refer to the OMIM gene page, as well as articles and references cataloged in PubMed and other scientific databases.

Additional Information Resources

For additional information on the ATP7B gene and Wilson disease, the following resources may be useful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. The ATP7B gene and Wilson disease are listed in the OMIM database, along with information on related diseases, variant changes, and affected proteins. OMIM provides a wealth of scientific articles, references, and other resources for further reading.
  • PubMed: PubMed is a database of scientific articles and references. Searching for “ATP7B gene” or “Wilson disease” within PubMed will yield a large number of articles on the topic, including studies on the gene’s function, related enzymes, and disease mechanisms.
  • Genetic Testing Registry (GTR): The GTR is a database of genetic tests and testing laboratories. It provides information on available tests for ATP7B gene mutations and their clinical validity, as well as contact information for testing facilities.
  • Copper-Transporting ATPase Database (CuTDat): CuTDat is a specialized database dedicated to copper-transporting ATPases, including ATP7B. It contains information on the gene, its variants, and related diseases, as well as the structure and function of the encoded protein.
  • Other Resources: There are many other online resources and databases that provide information on the ATP7B gene, Wilson disease, and related conditions. Some examples include disease-specific organizations, research institutes, and medical textbooks.

These resources can provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about the ATP7B gene and its role in health and disease.

Tests Listed in the Genetic Testing Registry

The ATP7B gene, also known as the copper-transporting ATPase, is responsible for the removal of excess copper from the body. Mutations in this gene can lead to Wilson disease, a condition characterized by the accumulation of copper in various organs and tissues.

Genetic testing can be used to identify changes or variants in the ATP7B gene that are related to this disease. The Genetic Testing Registry (GTR) provides a catalog of tests available for ATP7B gene testing, along with information on the laboratories that offer these tests.

Within the GTR, various tests are listed for ATP7B gene testing. These tests may involve sequencing the entire gene or specific regions of interest to identify disease-causing variants. The GTR also provides references to scientific articles and databases where additional information on these tests can be found.

References to scientific articles can be found within the GTR. These articles provide in-depth information on the ATP7B gene, its functions, and the various variants that may be associated with Wilson disease. PubMed is a commonly referenced database that contains articles related to genetic testing for this gene.

In addition to PubMed, other resources listed in the GTR include online Mendelian inheritance in man (OMIM), which provides information on genetic conditions and related genes, and the Human Gene Mutation Database (HGMD), which catalogs mutations in genes associated with human disease. These resources can be valuable for understanding the genetic basis of Wilson disease and its testing.

The GTR also provides information on the affected proteins, enzymes, and other genes that are related to the ATP7B gene. This includes information on the beta-ATPase, which is involved in copper transport, and other genes that may play a role in copper metabolism and removal from the body.

By making this information available, the GTR aims to support researchers, healthcare providers, and individuals interested in genetic testing for Wilson disease. It provides a centralized repository of information on available tests, associated genes, and scientific articles that can aid in the diagnosis and management of this condition.

In summary, the Genetic Testing Registry lists various tests for the ATP7B gene, which is associated with Wilson disease. These tests involve sequencing the gene and identifying disease-causing variants. The GTR provides references to scientific articles, databases, and other resources that can further enhance understanding of the genetic basis of this disease and its testing.

Scientific Articles on PubMed

Proteins and genes play a crucial role in the genetic makeup of organisms. The ATP7B gene is one such gene that is involved in various genetic conditions. PubMed is a well-known database that contains a vast collection of scientific articles related to genes, proteins, and other health-related topics. In this article, we will explore some scientific articles on PubMed that are specifically related to the ATP7B gene and its associated diseases.

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ATP7B is a copper-transporting ATPase beta (ATP7B) encoded by the ATP7B gene. This gene is responsible for facilitating the transport of copper within the body. Mutations or changes in this gene can lead to Wilson disease, a genetic disorder characterized by the abnormal accumulation of copper in various tissues and organs.

Testing for ATP7B gene variants is an important part of diagnosing Wilson disease. Additional genetic tests for this gene can also help identify changes or variants associated with other conditions or diseases.

PubMed provides a comprehensive list of scientific articles related to ATP7B and its role in Wilson disease and other conditions. These articles can serve as valuable resources for researchers and healthcare professionals working in the field of genetics and copper-related disorders.

Some of the articles listed in PubMed include:

  • “ATP7B gene mutations and Wilson disease” – This article discusses the various mutations and changes in the ATP7B gene that are associated with Wilson disease.
  • “Genetic testing for ATP7B variants in patients with copper-related disorders” – This article focuses on the importance of genetic testing for identifying ATP7B variants in patients with copper-related conditions.
  • “ATP7B gene and its role in copper transport” – This scientific article explores the function of the ATP7B gene in facilitating copper transport within the body.

In addition to PubMed, other resources like the Online Mendelian Inheritance in Man (OMIM) database and the GeneTests registry also provide valuable information and references related to the ATP7B gene and its associated diseases. Researchers and healthcare professionals can make use of these resources to further enhance their understanding of the ATP7B gene and its role in various health conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for scientists, researchers, and health professionals. It provides comprehensive information about genes and diseases, including the ATP7B gene and related conditions.

The ATP7B gene is responsible for encoding a copper-transporting ATPase, which plays a crucial role in copper metabolism. Mutations in this gene can lead to Wilson disease, a genetic disorder characterized by the accumulation of copper in various tissues and organs.

The Catalog includes information on the changes in the ATP7B gene that have been identified in testing for Wilson disease. This includes specific variant names and the corresponding changes in the gene sequence.

In addition to information on the ATP7B gene, the Catalog provides details on other genes and proteins involved in copper metabolism and related conditions. This includes information on enzymes, genes, and proteins that interact with ATP7B in the copper-transporting pathway.

The Catalog contains a wealth of scientific information on genes and diseases, making it an invaluable resource for researchers and healthcare professionals. It includes links to related articles in PubMed and other scientific databases, allowing users to access additional scientific literature on the ATP7B gene and related conditions.

The Catalog also serves as a registry of genetic diseases, listing all known diseases associated with mutations in the ATP7B gene. This includes Wilson disease and other conditions that result from impaired copper metabolism.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides essential information on the ATP7B gene and related conditions. It is a valuable tool for researchers, clinicians, and anyone interested in understanding the genetic basis of disease.

Gene and Variant Databases

The ATP7B gene, also known as the copper-transporting ATPase, is a part of the beta subfamily of ATPases. This gene is responsible for making a protein that plays a crucial role in copper transport within the body.

For scientific research and testing related to genetic diseases, several databases and resources are available to provide information about genes, variants, and affected diseases. These databases include:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genes and genetic conditions. It provides detailed information on diseases that are related to mutations or changes in the ATP7B gene, such as Wilson disease.
  • PubMed: PubMed is a database of scientific articles and references. It contains numerous articles related to the ATP7B gene and its associated diseases.
  • GeneTests: GeneTests is a registry of genetic testing laboratories and professionals. It provides information on the availability of genetic testing for ATP7B-related diseases.

In addition to these databases, other resources are available to access information on the ATP7B gene and its variants. These resources include:

  1. GeneCards: GeneCards is a database that provides comprehensive information on genes, including their function, related diseases, and other relevant information.
  2. UCSC Genome Browser: The UCSC Genome Browser allows users to access genomic information, including the location and structure of genes, such as ATP7B.

These databases and resources are valuable for researchers, clinicians, and individuals seeking information on the ATP7B gene and related diseases. They offer a wealth of information that can aid in the understanding, diagnosis, and treatment of conditions associated with ATP7B gene mutations.

References

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