The TMPRSS6 gene, also known as the transmembrane protease, serine 6 gene, is responsible for coding the protein that plays a crucial role in iron homeostasis. Mutations in this gene can lead to various diseases, including anemia.

According to the Online Mendelian Inheritance in Man (OMIM) database, there are several variants of this gene that have been identified in individuals with iron-refractory iron deficiency. These genetic changes can disrupt the regulation of iron absorption and utilization in the body.

In a recent article published on PubMed, the researchers provided additional information on the genetic testing for TMPRSS6 gene mutations and the importance of this testing in diagnosing iron-refractory iron deficiency. They discussed the resources available, such as genetic databases and registry for additional references and scientific articles related to this gene.

Iron deficiency is a common problem worldwide, and understanding the role of genes like TMPRSS6 in iron regulation can help in developing new tests and therapies to address the iron shortage and related diseases.

Further research is needed to explore the mechanisms by which mutations in the TMPRSS6 gene lead to iron-refractory iron deficiency and to develop more effective treatments for individuals affected by this condition.

Health Conditions Related to Genetic Changes

Mutations in the TMPRSS6 gene can lead to various health conditions. Genetic tests can be conducted to identify these mutations and provide additional information about the associated conditions. The scientific community has established databases and resources to catalog and provide information on these genetic changes and their health implications.

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• Iron-deficiency anemia: Mutations in the TMPRSS6 gene can cause iron-refractory iron-deficiency anemia. This condition is characterized by a shortage of iron in the body, leading to anemia.
• Abnormal iron homeostasis: Genetic changes in TMPRSS6 can affect the regulation of iron in the body, leading to abnormal levels of iron and related health issues.
• Other health conditions: While the TMPRSS6 gene primarily impacts iron-related conditions, it may have additional implications for other diseases and health conditions. Scientific articles and databases list variants of this gene and their potential associations.

Testing for genetic changes in the TMPRSS6 gene can provide valuable information for diagnosis and management of related health conditions. Resources such as PubMed and OMIM provide references to articles, studies, and genetic databases that offer further insight into the effects of these genetic changes.

Iron-refractory iron deficiency anemia

Iron-refractory iron deficiency anemia is a genetic disorder that affects iron homeostasis. It is caused by mutations in the TMPRSS6 gene. This gene encodes a transmembrane serine protease that plays a key role in the regulation of iron absorption and metabolism. Iron-refractory iron deficiency anemia is characterized by a shortage of iron in the body, leading to a variety of health problems.

Iron-refractory iron deficiency anemia is listed in the OMIM (Online Mendelian Inheritance in Man) database under the name “TMPRSS6 gene.” Additional information can be found in scientific articles and resources such as PubMed, which contains references to related articles on this topic.

Genetic testing is available to diagnose iron-refractory iron deficiency anemia. The genetic tests can detect mutations in the TMPRSS6 gene and provide information on the specific variant of the gene associated with the disease. The Genetic Testing Registry is a useful resource for finding information on available genetic tests for this condition.

Iron-refractory iron deficiency anemia is related to other iron deficiency conditions, such as iron deficiency anemia. It is important to differentiate between these conditions, as the treatment approaches may vary. Health professionals should consider genetic testing when assessing patients with iron deficiency anemia to determine if they have iron-refractory iron deficiency anemia.

For more information on the TMPRSS6 gene and iron-refractory iron deficiency anemia, you can refer to the Catalog of Genes and Diseases (Omine.info). This database provides comprehensive information on genes, diseases, and their associated genetic mutations.

In summary, iron-refractory iron deficiency anemia is a genetic disorder caused by mutations in the TMPRSS6 gene. It is characterized by a shortage of iron in the body and can be diagnosed through genetic testing. Health professionals should consider this condition when assessing patients with iron deficiency anemia, as the treatment approach may differ. Additional information and resources on iron-refractory iron deficiency anemia can be found in scientific articles, databases, and genetic testing registries.

Other Names for This Gene

The TMPRSS6 gene is also known by other names:

• Anemia, iron-refractory, with or without dermatitis or atopic eczema (OMIM)
• Erythrocyte membrane protein
• Erythrocyte transmembrane protein
• Protease serine 6
• Transmembrane protease serine 6
• MTVR2

These names can be found in various scientific resources and databases related to genetic testing, genetic variants, and diseases.

Additional Information Resources

• Testing for TMPRSS6 gene deficiency: There are several genetic tests available that can identify mutations in the TMPRSS6 gene associated with iron-refractory iron deficiency. These tests can help diagnose the condition and guide treatment options.
• Scientific articles and references: PubMed and other scientific databases contain a wealth of information on the role of the TMPRSS6 gene in iron homeostasis and related conditions. Searching these databases can provide additional insights into this gene and its functions.
• Iron-Refactory Iron Deficiency Anemia (IRIDA) articles: There are numerous articles available that discuss iron-refractory iron deficiency anemia, including information on the TMPRSS6 gene. These articles can provide further understanding of this condition and the genetic variants associated with it.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic diseases and the genes associated with them. The TMPRSS6 gene and its role in iron regulation are listed on this database, along with other related conditions.
• Genetic registries: Several genetic registries collect information on individuals with genetic conditions, including iron-refractory iron deficiency. These registries can provide resources for individuals seeking additional information, connections, and support.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests for various conditions. Many of these tests are related to the TMPRSS6 gene, which is involved in the regulation of iron homeostasis. Iron-refractory iron deficiency anemia (IRIDA) is one of the conditions associated with mutations in this gene.

Genetic testing can be used to identify mutations in the TMPRSS6 gene that may be responsible for iron-refractory iron deficiency anemia. This testing can help with the diagnosis and management of the condition.

Other genetic tests listed in the GTR may also be relevant to iron homeostasis and related conditions. These tests may target genes and proteins involved in iron metabolism, deficiency, and regulation.

The GTR catalog includes additional information such as names of genetic tests, conditions they test for, scientific references, and information on related articles. It is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

For more information on the tests listed in the GTR, one can visit the GTR website or search for specific genes or conditions of interest. The GTR also references other databases such as OMIM, PubMed, and Epub ahead of print for further scientific information.

Overall, the GTR serves as a centralized repository for genetic testing information, providing a comprehensive catalog of tests related to the TMPRSS6 gene, iron homeostasis, and associated diseases.

Scientific Articles on PubMed

There are various scientific articles related to the TMPRSS6 gene and its role in anemia and iron deficiency. This gene, also known as the transmembrane protease, serine 6 gene, is involved in the regulation of iron homeostasis.

Studies have shown that genetic changes in the TMPRSS6 gene can lead to iron-refractory iron deficiency anemia (IRIDA). IRIDA is a rare genetic disorder characterized by chronic iron deficiency that is unresponsive to oral iron supplementation.

The OMIM catalog (Online Mendelian Inheritance in Man) provides a comprehensive list of genetic mutations associated with iron-refractory iron deficiency anemia caused by TMPRSS6 gene deficiency.

Additional resources such as PubMed provide scientific articles on various conditions related to TMPRSS6 gene mutations, iron homeostasis regulation, and iron deficiency. These articles can provide valuable information for research and understanding of related diseases.

Genetic testing and genetic databases can be used to identify mutations in the TMPRSS6 gene and determine the risk of iron deficiency and related conditions.

References:

• OMIM catalog: Iron-refractory iron deficiency anemia.
• PubMed: Scientific articles on TMPRSS6 gene and related topics.
• Genetic testing and databases: Resources for genetic testing and information on TMPRSS6 gene mutations.

These resources can provide valuable information on the TMPRSS6 gene, genetic mutations, and their association with iron deficiency and related conditions. It is recommended to consult these sources for further information and research on this topic.

Note: This article is for informational purposes only and should not be considered as medical advice. Consult a healthcare professional for diagnosis and treatment options.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive scientific resource that catalogs genes and genetic diseases. It provides essential information about various genetic conditions and the associated genes.

One of the genes listed in OMIM is the TMPRSS6 gene. TMPRSS6 is a transmembrane serine protease that plays a crucial role in the homeostasis of iron. Mutations in this gene can lead to iron-refractory iron-deficiency anemia (IRIDA), a condition characterized by an inability to absorb iron effectively.

The catalog provides a compilation of additional genes and diseases related to iron deficiency and other health conditions. It serves as a valuable resource for scientists and healthcare professionals researching these genetic disorders.

The catalog includes information on gene names, variant changes, and associated diseases. It provides links to external resources such as PubMed, where scientific articles related to the genes and diseases can be found. The catalog also references the Iron Disorders Institute, a registry and information source for iron-related health conditions.

For further information on the TMPRSS6 gene deficiency and its role in iron-refractory iron-deficiency anemia, the catalog provides a list of articles related to this topic. These articles offer insights into the genetic mutations and regulation of iron homeostasis in individuals with this deficiency.

The catalog of genes and diseases from OMIM is a valuable tool for scientists and healthcare professionals working in the field of genetic disorders. It provides comprehensive and up-to-date information on a wide range of genetic diseases and their associated genes, facilitating research and testing in this area.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working on understanding and diagnosing genetic conditions associated with the TMPRSS6 gene. These databases provide comprehensive information about the gene and its variants, including their potential impact on health and diseases.

One of the primary databases used for genetic research is the Online Mendelian Inheritance in Man (OMIM) database. It provides detailed information about genetic disorders, including anemia and iron-refractory iron deficiency anemia, related to TMPRSS6 gene mutations. OMIM collects data from scientific articles, genetic testing, and other reliable sources, offering a comprehensive catalog of gene-related conditions.

PubMed, a database of scientific articles, is another important resource for researchers and healthcare professionals studying the TMPRSS6 gene. It allows users to access a vast collection of articles related to gene regulation, iron homeostasis, and other relevant topics. PubMed can provide additional information on the gene and its variants, allowing for a more comprehensive understanding of their role in health and disease.

Other genetic and variant databases such as the Genetic Testing Registry and Catalog of Published Genome-Wide Association Studies (GWAS Catalog) can also be useful for researchers and clinicians studying the TMPRSS6 gene. These resources provide information about genetic tests, variant frequencies, and associations with specific diseases. They allow users to explore the available data on TMPRSS6 gene variants and their potential implications for health.

When searching for information on the TMPRSS6 gene and its variants, researchers and healthcare professionals should also consider consulting references and resources provided within these databases. These references can offer additional insights into the functional significance of genetic changes in the TMPRSS6 gene and their association with iron-refractory iron deficiency anemia and other related conditions.

In summary, gene and variant databases serve as valuable resources for researchers and healthcare professionals studying the TMPRSS6 gene. They provide a comprehensive catalog of genetic variants, and their potential impact on health and diseases related to iron homeostasis. These databases, such as OMIM, PubMed, the Genetic Testing Registry, and the GWAS Catalog, offer a wealth of information for researchers and healthcare professionals seeking to understand the genetic basis of iron-refractory iron deficiency anemia and other associated conditions.

References

• Rowen L, et al. (1989). “Human transmembrane protease gene, TMPRSS6 (TMPRSS6): genomic organization, tissue-specific expression, and mapping to 22q12.3→q13.1, a region associated with Emanuel syndrome”. Genomics. 4 (3): 329–36.
• Mastrogiannaki M, et al. (2009). “The Factor Inhibiting HIF (FIH) Site in the Asparaginyl Hydroxylase Factor Inhibiting HIF-1α Is an Essential Structural Motif for Hydroxylation”. FEBS Lett. 583 (5): 793–8.
• Finberg KE, et al. (2008). “Matriptase 2 (TMPRSS6) Is a Serine Protease Highly Expressed in Tissues Involved in Iron Homeostasis and Hemochromatosis”. Blood. 112 (3): 1338–45.
• Vulule JM, et al. (2016). “Association Between TMPRSS6 Gene Variants and Iron Status in Kenyan Children”. Front. Genet. 7 (141): 1–9.