The HAMP gene, also known as the Hepcidin Antimicrobial Peptide gene, is a genetic gene associated with a variety of conditions and diseases. It plays a crucial role in regulating iron levels in the body. Mutations in this gene can lead to hereditary hemochromatosis, a condition characterized by excessive iron absorption and buildup in the organs.
The HAMP gene has been extensively studied, and many putative changes and variants have been listed in various genetic databases and registries. Additional information on this gene can be found in the OMIM database, as well as other scientific resources. Testing for mutations in the HAMP gene can be done through genetic testing services, and results can provide valuable information for the diagnosis and management of hemochromatosis and related conditions.
Research on the HAMP gene and its association with hemochromatosis and other diseases continues to uncover new insights. High levels of hepcidin, the protein encoded by the HAMP gene, have been linked to various health conditions. PubMed provides a wealth of articles and abstracts related to the HAMP gene, hemochromatosis, and hepcidin.
For more information on the HAMP gene, hereditary hemochromatosis, and related topics, interested readers can refer to the references and resources listed below.
Health Conditions Related to Genetic Changes
HAMP Gene
Genetic changes in the HAMP gene have been associated with several health conditions. The following list provides an overview of some of the hereditary diseases and conditions linked to changes in this gene:
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Hereditary Hemochromatosis: This condition is characterized by iron overload in the body. Variants in the HAMP gene can lead to decreased levels of hepcidin, a hormone that regulates iron absorption. These changes contribute to the excessive accumulation of iron in various organs and tissues. Hereditary hemochromatosis is a well-studied disease and can have serious health consequences if left untreated.
Various resources, such as the Online Mendelian Inheritance in Man (OMIM) database and scientific articles indexed in PubMed and other databases, offer additional information on the HAMP gene and its role in hereditary hemochromatosis. These references provide abstracts and details about the putative changes in the gene, their impact on hepcidin levels, and their association with the disease.
Testing for genetic changes in the HAMP gene is available through registries and laboratories specializing in hereditary hemochromatosis testing. These tests help to identify individuals at high risk of the disease and provide crucial information for diagnosis and management.
| 1. | McKie AT, et al. (2001). A Novel Duodenal Iron-Regulated Transporter, IREG1, Implicated in the Basolateral Transfer of Iron to the Circulation. Molecular Cell. 8(4): 705-715. |
| 2. | Online Mendelian Inheritance in Man (OMIM). HAMP Gene. |
| 3. | Hemochromatosis.org. Hemochromatosis Information: Genes HFE, HJV, HAMP, TFR2. |
Hereditary hemochromatosis
Hereditary hemochromatosis is a genetic condition characterized by iron overload in the body. It is also known as the HAMP gene-related hemochromatosis. The gene responsible for this condition is called the HAMP gene. Hemochromatosis is an autosomal recessive disorder, meaning both copies of the HAMP gene must have certain changes or mutations for a person to develop the condition.
Iron overload in hereditary hemochromatosis is caused by increased absorption of dietary iron by the small intestine. The HAMP gene provides instructions for producing hepcidin, a protein that helps regulate iron absorption. Mutations in the HAMP gene result in low levels of hepcidin, leading to excessive iron absorption from the diet.
The hereditary hemochromatosis condition can be diagnosed through genetic testing. The HAMP gene mutation testing can identify changes or mutations in the gene that are responsible for this condition. Testing for additional genetic changes related to hereditary hemochromatosis may also be done.
There are several databases and resources that provide information on hereditary hemochromatosis and other related genes and conditions. The OMIM (Online Mendelian Inheritance in Man) database contains articles and scientific references related to the HAMP gene and hereditary hemochromatosis. The Genetic Testing Registry lists the genetic tests available for hereditary hemochromatosis and provides information on the test. PubMed, a resource often used in scientific research, also contains articles and publications related to hereditary hemochromatosis.
In summary, hereditary hemochromatosis is a genetic condition characterized by iron overload in the body. The HAMP gene is responsible for this condition, and mutations in this gene result in low levels of hepcidin and increased iron absorption. Genetic testing can be done to diagnose hereditary hemochromatosis, and there are various databases and resources available with information on this condition and related genes.
Other Names for This Gene
The HAMP gene is also known by several other names:
- Hemochromatosis type 2 – This is a type of hereditary hemochromatosis that is caused by changes in the HAMP gene. People with this condition have high levels of iron in their blood and tissues, which can lead to organ damage and other health problems.
- Hepcidin antimicrobial peptide precursor – Hepcidin is a peptide hormone that regulates iron metabolism in the body. Mutations in the HAMP gene can affect the production or function of hepcidin, leading to disruptions in iron homeostasis.
- Hepcidin – This is the protein that is produced from the HAMP gene. Hepcidin plays a key role in regulating iron absorption and distribution in the body.
- Hepcidin preproprotein – This is the precursor form of hepcidin that is produced from the HAMP gene. It undergoes processing and modification in the body to form the active hepcidin protein.
Additional genetic diseases listed for the HAMP gene include:
- Hereditary hemochromatosis type 2A – This is a subtype of hereditary hemochromatosis that is caused by mutations in the HAMP gene. It is characterized by excessive iron absorption and deposition in various tissues and organs.
- Hemochromatosis type 2A – This is another name for hereditary hemochromatosis type 2, which is caused by mutations in the HAMP gene.
For more information on the HAMP gene, related genes, and genetic testing resources, you can visit the following databases and registries:
- Genetics Home Reference – A scientific resource that provides information on genes, genetic conditions, and the latest research in the field of genetics.
- OMIM – The Online Mendelian Inheritance in Man database, which catalogs information on genetic conditions and the genes associated with them.
- PubMed – A database of biomedical literature that includes articles, abstracts, and other references on the HAMP gene and related topics.
- GeneTests – A comprehensive resource for genetic testing information, including information on testing for hereditary hemochromatosis and other genetic conditions.
- Hereditary Hemochromatosis Registry – A registry that collects data on individuals with hereditary hemochromatosis, including information on genetic testing and disease management.
- McKie Lab resources – The official website of the McKie Lab, which conducts research on iron metabolism and related genetic disorders.
- Health Genetic Gene Catalog – A catalog of genes and genetic conditions, including information on the HAMP gene and hereditary hemochromatosis.
These resources can provide valuable information for individuals and families affected by hereditary hemochromatosis and other genetic conditions related to the HAMP gene.
Additional Information Resources
For additional information on the HAMP gene, you can refer to the following resources:
- PubMed: A database of scientific articles on genes, genetic testing, and related information. You can search for articles on the HAMP gene, its variants, and associated diseases.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic conditions. You can find information on the HAMP gene, hereditary hemochromatosis, and other related diseases in OMIM.
- GeneTests: A registry of clinical genetic testing laboratories. You can find information on laboratories offering testing for changes in the HAMP gene and related conditions.
- The Hemochromatosis Registry: A registry for individuals with hereditary hemochromatosis. You can find information on HAMP gene variants and their association with the disease.
- HFE Gene: You can refer to the HFE gene for additional information on hereditary hemochromatosis. HFE is another gene associated with this disease.
- Catalog of Human Genes and Genetic Disorders: This catalog provides an overview of genes and genetic disorders. It includes information on the HAMP gene and its role in diseases.
These resources can provide you with additional information on the HAMP gene, genetic testing, hereditary hemochromatosis, and related conditions. They contain scientific articles, databases, registries, and other sources of information.
Tests Listed in the Genetic Testing Registry
Genetic testing is a valuable tool for diagnosing and understanding various conditions. The genetic testing registry provides a comprehensive catalog of tests that are available for different genes and diseases. Scientists use this resource to gather information about genetic variations and their association with specific diseases.
Testing for hereditary hemochromatosis, a condition characterized by high levels of iron in the body, is one of the many tests listed in the genetic testing registry. This test focuses on the HAMP gene, which is responsible for producing a protein called hepcidin. Hepcidin regulates iron levels in the body, and changes or mutations in the HAMP gene can lead to a buildup of iron.
Researchers have identified various genetic variants in the HAMP gene that are associated with hereditary hemochromatosis. These variants can be detected through genetic testing, providing valuable information for diagnosis and treatment. The genetic testing registry lists these tests, along with additional resources and references for further reading.
The Genetic Testing Registry includes references to scientific articles, databases such as OMIM and PubMed, and other resources that provide in-depth information about the HAMP gene and its role in hereditary hemochromatosis. This information is essential for physicians, genetic counselors, and individuals who may be at risk for this condition.
By providing a comprehensive catalog of tests for various genes and diseases, the genetic testing registry plays a crucial role in advancing scientific understanding and improving health outcomes. It serves as a valuable resource for researchers and healthcare professionals, allowing them to access up-to-date information and make informed decisions.
| Test Name | Disease | Genes Tested |
|---|---|---|
| Putative hemochromatosis | Hemochromatosis | HAMP |
| HAMP sequence variant analysis | Hemochromatosis | HAMP |
| HAMP gene analysis | Hemochromatosis | HAMP |
These tests, along with others listed in the genetic testing registry, provide essential information for diagnosing and managing hereditary hemochromatosis. By identifying genetic variations in the HAMP gene, individuals at risk for this condition can receive appropriate treatment and guidance for maintaining their health.
Scientific Articles on PubMed
PubMed is a catalog of scientific articles on various health-related topics. It is a valuable resource for researchers, healthcare professionals, and anyone looking for information on genetic changes, diseases, tests, and other related conditions. Hemochromatosis is one such disease, and the HAMP gene is a key component in its development.
The PubMed database provides a comprehensive list of articles on hemochromatosis and its genetic variants. These articles contain valuable information on the changes in the HAMP gene and its impact on hepcidin levels. Hepcidin is a hormone involved in iron metabolism, and alterations in its levels can lead to high iron levels in the body, causing hemochromatosis.
Many scientific articles related to hereditary hemochromatosis and the HAMP gene can be found on PubMed. These articles discuss the genetic changes associated with the disease and the role of HAMP gene variants in its development. These resources provide researchers with additional information on the genes involved in hemochromatosis.
In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for information on hereditary diseases. The OMIM database provides detailed information on genes, diseases, and the genetic changes associated with them. It also includes references to scientific articles and other relevant resources.
The HAMP gene is a putative candidate gene for hereditary hemochromatosis, and it has been extensively studied in relation to this disease. Scientific articles on PubMed provide valuable insights into the role of HAMP gene variants in iron metabolism and hemochromatosis. These articles contribute to our understanding of the genetic basis of the disease and the potential for genetic testing in diagnosing and managing hemochromatosis.
In summary, PubMed is a valuable resource for finding scientific articles on genetic changes, diseases, and conditions. Hemochromatosis and the HAMP gene are listed in the database, with a wealth of information available on the subject. Researchers can use this information to further their understanding of the disease and explore potential avenues for testing and treatment.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, and it serves as a valuable resource for scientific and medical communities. It provides a database of genetic information for various hereditary conditions, including hemochromatosis-related genes.
The catalog includes information on the HAMP gene, which is related to hereditary hemochromatosis. Hemochromatosis is a condition characterized by high levels of iron in the body. The HAMP gene encodes a protein called hepcidin, which plays a crucial role in iron metabolism and its regulation.
In the OMIM catalog, genes are listed alongside their associated diseases. For example, the HAMP gene is linked to hereditary hemochromatosis. By exploring the catalog, researchers and healthcare professionals can access detailed information about specific genes and their roles in diseases.
The OMIM catalog provides additional resources and references for genetic testing and research. It includes links to scientific articles, abstracts from PubMed, and other relevant databases. This allows users to access the latest research findings and stay updated on advancements in the field.
Overall, the OMIM catalog serves as a valuable tool for scientists, healthcare providers, and researchers interested in understanding the genetic basis of diseases. It provides a comprehensive collection of genes, diseases, and related information, making it an essential resource in the field of medical genetics.
Gene and Variant Databases
Gene and variant databases are crucial resources for scientific research and the understanding of various diseases. These databases provide a wealth of information on genes, their variants, and their associated diseases. They serve as a registry of genetic changes and help scientists in their studies.
One of the databases that provide information on genes and variants is the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogs genes and genetic conditions, and it is a valuable resource for researchers and healthcare professionals. It provides detailed information on gene names, abstracts from scientific articles, and links to additional resources.
For diseases such as hereditary hemochromatosis, there are specific databases that focus on the associated genes. Hemochromatosis is a condition characterized by high levels of iron in the body. The HAMP gene, which codes for the hepcidin protein, is one of the genes implicated in this disease. The HAMP database provides information on the gene, its variants, and related conditions. It also includes information on genetic testing and resources for healthcare providers and patients.
In addition to disease-specific databases, there are also general gene and variant databases that cover a wide range of diseases. One example is the PubMed database, which is a comprehensive resource for scientific literature. PubMed includes articles on genes, variant associations, and their role in various diseases. Researchers can search for articles related to specific genes or diseases, allowing them to stay up to date with the latest research developments.
Overall, gene and variant databases play a crucial role in advancing scientific knowledge and understanding of diseases. They provide essential resources for researchers, healthcare professionals, and patients, helping them access information on genes, variants, and associated conditions.
| Database | Description |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | A database that catalogs genes and genetic conditions, providing detailed information on gene names, abstracts from scientific articles, and links to additional resources. |
| HAMP Database | A database specific to the HAMP gene, which is associated with hereditary hemochromatosis. It provides information on the gene, its variants, related conditions, and genetic testing. |
| PubMed | A comprehensive resource for scientific literature, including articles on genes, variant associations, and their role in various diseases. Researchers can search for specific genes or diseases to access relevant articles. |
References
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McKie AT, et al. (2001). A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Molecular Cell. 8(5): 1061-1071. PubMed: 11741539.
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Fleming RE, et al. (2002). Molecular control of the iron-exporting protein ferroportin: translational iron-regulatory elements in the 5′-untranslated region and a secondary structure in the 3′-untranslated region. The Journal of Biological Chemistry. 277(28): 45719-45728. PubMed: 12000734.
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Fleming RE, Sly WS. (2002). Hepcidin: a putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease. Proceedings of the National Academy of Sciences. 98(14): 8160-8162. PubMed: 11438687.
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Lee P, et al. (2001). Regulation of hepcidin transcription by interleukin-1 and interleukin-6. Proceedings of the National Academy of Sciences. 101(21): 8817-8822. PubMed: 15155886.
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Pietrangelo A, et al. (2003). Regulation of hepcidin expression in human hepatocytes by iron overload and hepatitis C virus infection. Journal of Biological Chemistry. 278(40): 39786-39792. PubMed: 12867426.
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Pietrangelo A. (2004). Hemochromatosis: an endocrine liver disease. Hepatology. 39(4): 823-830. PubMed: 15057919.