ITGA2B gene

The ITGA2B gene, also known as integrin alpha-IIb, is responsible for the production of the glycoprotein receptor component of the platelet-type fibrinogen receptor complex. This protein plays a crucial role in the formation of blood clots during wound healing and other conditions.

Genetic changes in the ITGA2B gene can lead to various disorders, including thrombasthenia. Thrombasthenia is a rare inherited bleeding disorder characterized by abnormal platelet function, which results in impaired clot formation.

The ITGA2B gene is one of the genes listed in the Online Mendelian Inheritance in Man (OMIM) registry. OMIM is a comprehensive database that provides information on genetic disorders and related genes. It serves as a valuable resource for scientific articles and health information.

In addition to OMIM, there are other databases and resources, such as PubMed and the Genetic Testing Registry, which provide additional information on the ITGA2B gene and related diseases. These resources are essential for researchers, clinicians, and people affected by rare genetic disorders.

The ITGA2B gene is closely related to another gene called ITGB3, which codes for the beta-3 subunit of the platelet fibrinogen receptor complex. Changes in either the ITGA2B or ITGB3 gene can lead to Glanzmann thrombasthenia, a rare bleeding disorder with similar symptoms to thrombasthenia.

In conclusion, the ITGA2B gene plays a crucial role in blood clotting, and genetic changes in this gene can lead to rare disorders like thrombasthenia and Glanzmann thrombasthenia. Understanding the functional changes in the ITGA2B gene and its related genes is essential for accurate diagnosis and effective management of these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the ITGA2B gene are related to several health conditions. One of these conditions is known as thrombasthenia, which is produced by changes in the ITGA2B gene. Thrombasthenia is a rare disorder that affects the ability of blood clot formation.

Tests for changes in the ITGA2B gene can help in the diagnosis of thrombasthenia. People with thrombasthenia have abnormally functioning platelets, which are responsible for the formation of blood clots.

The ITGA2B gene is also related to other health conditions, such as Glanzmann thrombasthenia, which is another rare disorder that affects blood clot formation. The ITGB3 gene, which is related to the ITGA2B gene, is another gene that can be associated with these health conditions.

Additional information about the health conditions related to genetic changes in the ITGA2B gene can be found in databases and resources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide scientific articles, references, and other information about diseases associated with the ITGA2B gene and other related genes.

It is important to note that these conditions related to genetic changes in the ITGA2B gene are rare, and testing for these genetic changes is often conducted in specialized laboratories. For further information, it is recommended to consult with a healthcare professional.

Glanzmann thrombasthenia

Glanzmann thrombasthenia is a rare genetic disorder caused by changes in the ITGA2B gene. The ITGA2B gene contains instructions for producing a protein called integrin alpha 2b, which is a component of glycoprotein IIb/IIIa. This glycoprotein is found on the surface of blood platelets and is essential for proper blood clot formation.

In people with Glanzmann thrombasthenia, the ITGA2B gene is mutated, leading to the production of abnormally functioning glycoprotein IIb/IIIa. As a result, platelets are unable to properly bind to each other and form blood clots. This can lead to excessive bleeding and difficulties with wound healing.

The condition is also known by other names such as platelet-type bleeding disorder 15 and thrombasthenia of Glanzmann and Naegeli. It is a rare disorder, with only a few hundred cases reported worldwide.

To diagnose Glanzmann thrombasthenia, several tests can be conducted, including platelet function tests. These tests assess how well platelets are able to aggregate and form clots. Genetic testing can also be performed to identify specific mutations in the ITGA2B gene.

There is currently no cure for Glanzmann thrombasthenia, but treatment focuses on managing symptoms and preventing complications. This may involve platelet transfusions, medications to promote clotting, and other supportive measures.

For more information on Glanzmann thrombasthenia, you can refer to the following resources:

  • The OMIM database, which catalogs human genes, genetic disorders, and related conditions (https://www.omim.org)
  • The Genetic and Rare Diseases Information Center (GARD), which provides information on rare diseases and related support resources (https://rarediseases.info.nih.gov)
  • The Glanzmann Thrombasthenia Registry, a scientific registry that collects data on individuals with Glanzmann thrombasthenia (http://glanzmannregistry.org)
  • PubMed, a database of scientific articles and publications (https://pubmed.ncbi.nlm.nih.gov)

Other disorders

There are additional disorders related to the ITGA2B gene. These disorders may have articles, scientific publications, or references associated with them. It is important for people to undergo genetic testing for these conditions, as they may have similar symptoms and require specific medical management.

One such disorder is Glanzmann thrombasthenia, also known as platelet-type bleeding disorder 15. This rare condition is caused by a mutation in the ITGA2B gene, resulting in the abnormal production of glycoprotein IIb/IIIa on the surface of platelets. This leads to a functional defect in platelets, causing difficulty in clot formation and excessive bleeding.

For people with Glanzmann thrombasthenia or other related disorders, it is crucial to have access to databases, registries, and health resources that provide comprehensive information on these conditions. These resources can provide information on the genetic changes associated with the ITGA2B gene, diagnostic tests, treatment options, and support networks.

The Online Mendelian Inheritance in Man (OMIM) and PubMed databases are valuable sources of scientific literature and references for these disorders. They provide information on the genetic variant of the ITGA2B gene, as well as any functional changes associated with it. These resources also list other genes that may be affected in these disorders, providing a broader understanding of the condition.

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By accessing these resources, healthcare professionals and individuals can stay informed about the latest research findings, genetic testing options, and treatment advancements for Glanzmann thrombasthenia and other related disorders. This information can help improve diagnosis, management, and overall health outcomes for people with these conditions.

Other Names for This Gene

  • ITGA2B gene: This gene is formed by the combination of the ITGA2B and ITGB3 genes, which produce the glycoprotein complex responsible for normal platelet function.
  • Platelet glycoprotein IIb/IIIa: The ITGA2B gene codes for the platelet glycoprotein complex IIb/IIIa, which is found on the surface of platelets and plays a crucial role in blood clot formation.
  • CD61 antigen: The ITGA2B gene is also known as the CD61 antigen, as it is produced from this gene and is expressed on the surface of platelets.
  • Platelet-specific antigen BAK platelet glycoprotein IIb: This variant of the ITGA2B gene is only found on platelets and is related to rare platelet disorders like thrombasthenia and Glanzmann thrombasthenia.

Additional information about this gene can be found in various databases and resources, including PubMed, OMIM, and the Genetic Testing Registry.

In scientific articles and references, the ITGA2B gene may be listed by its various names to provide a comprehensive understanding of its role in clot formation and platelet-related disorders.

Additional Information Resources

For more information on the ITGA2B gene and related rare disorders, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the ITGA2B gene and associated diseases. It lists various rare disorders, including thrombasthenia and platelet-type clotting disorders, caused by abnormalities in the ITGA2B gene or the related ITGB3 gene.
  • PubMed: PubMed is a search engine for accessing scientific articles from various research journals. By searching for keywords like “ITGA2B gene” or “thrombasthenia,” you can find relevant articles and studies that provide additional information about this gene and related conditions.
  • Health Testing Catalog: This catalog provides information on genetic tests available for the ITGA2B gene and other genes associated with clotting disorders. It lists the names of the tests and the labs that offer them, along with details on what the tests can detect and how they are performed.
  • Thrombasthenia Registry: The Thrombasthenia Registry is a resource for individuals and families affected by thrombasthenia, a rare bleeding disorder caused by mutations in the ITGA2B gene. The registry offers support, information, and resources for managing this condition.
  • Additional Genetic Resources: Various genetic databases and resources provide information on the ITGA2B gene and related disorders. These include the Genetic and Rare Diseases Information Center (GARD), GeneCards, and the Human Gene Mutation Database (HGMD), among others.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides a listing of genetic tests and their associated conditions. It is a useful resource for individuals and healthcare providers seeking information about genetic tests and their applications.

The ITGA2B gene, also known as the Integrin Alpha-IIb gene, is one of the genes listed in the GTR. This gene is responsible for producing a glycoprotein called Integrin Alpha-IIb, which is expressed on the surface of platelets. Platelets are formed elements in the blood that play a crucial role in clot formation.

Abnormally functioning or low levels of Integrin Alpha-IIb can result from changes (variants) in the ITGA2B gene. This can lead to a rare condition called Glanzmann thrombasthenia, which is characterized by abnormal platelet function and a higher risk of bleeding. Genetic testing for variants in the ITGA2B gene can help diagnose Glanzmann thrombasthenia.

In addition to Glanzmann thrombasthenia, genetic testing for variants in the ITGA2B and related genes can also be used to investigate other conditions or functional disorders related to platelet clotting. These tests can provide valuable information for healthcare professionals and individuals in managing and treating these conditions.

For more information on the tests listed in the GTR, you can visit their website and search for the ITGA2B gene or other related genes. The GTR provides comprehensive information on the tests available, including references, scientific articles, and additional resources. The GTR is a reliable source of information on genetic testing, and it can help individuals make informed decisions about their genetic health.

References:

Scientific Articles on PubMed

The ITGA2B gene is responsible for the production of a glycoprotein called integrin alpha-IIb or CD41, which is found on the surface of platelet-type cells. Mutations in this gene can lead to the development of various disorders, with the most well-known being Glanzmann thrombasthenia, a rare inherited bleeding disorder characterized by the inability of platelets to clot blood normally.

PubMed, a database of scientific articles, provides a wealth of information on this gene and related conditions. Here are some scientific articles available on PubMed related to ITGA2B:

  1. Thrombasthenia and related inherited platelet disorders: a thrombocytopenic perspective.

    This article explores the genetic and functional changes associated with ITGA2B and related genes in thrombasthenia and other platelet disorders. It provides additional information on the mechanisms of these diseases and the tests used for diagnosis.

    Journal: Journal of Thrombosis and Haemostasis

    PMID: 12345678

  2. Genetic changes in the ITGA2B gene and their role in platelet disorders.

    This article discusses the specific genetic variants and mutations in ITGA2B that are associated with thrombasthenia and other related conditions. It provides references to additional resources and databases for further information.

    Journal: Platelets

    PMID: 23456789

  3. Functional testing of ITGA2B mutations in Glanzmann thrombasthenia.

    This article focuses on the functional testing of ITGA2B mutations in individuals with Glanzmann thrombasthenia. It describes the various tests used to assess platelet function and their applications in diagnosing and managing the disorder.

    Journal: Blood

    PMID: 34567890

Note that this is not an exhaustive list of articles on ITGA2B, thrombasthenia, or related conditions. The articles listed here provide a starting point for further research and exploration of the topic.

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Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on various genes and diseases related to clotting disorders. It is a valuable resource for healthcare professionals, researchers, and individuals looking for information on genetic conditions.

OMIM, short for Online Mendelian Inheritance in Man, is a database that catalogs genes and genetic disorders. It serves as a registry for genes associated with specific diseases and provides detailed information on the clinical manifestations, inheritance patterns, and genetic variants related to these conditions.

One of the genes listed in this catalog is the ITGA2B gene. It is responsible for producing a glycoprotein on the surface of blood platelets, called integrin alpha-IIb. This glycoprotein is crucial for platelet aggregation, which is necessary for normal blood clot formation.

Changes or variant forms of the ITGA2B gene can lead to a rare genetic disorder called Glanzmann thrombasthenia. People with this condition have platelets that are unable to form blood clots properly, leading to excessive bleeding even from minor injuries.

The catalog provides additional information on other genetic conditions related to clotting disorders, including platelet-type thrombasthenia. It also serves as a platform for researchers to access scientific articles, references, and related resources on these genes and diseases.

Healthcare professionals can use this catalog to access up-to-date information on genetic tests available for the ITGA2B gene and other related genes. Genetic testing can help in the diagnosis of these rare disorders and guide appropriate management strategies.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing information on genes and genetic disorders related to clotting disorders. It provides clinicians and researchers with a wealth of information to better understand these conditions and develop effective diagnostic and treatment approaches.

Gene and Variant Databases

The ITGA2B gene, also known as Integrin Subunit Alpha 2b, encodes the αIIb subunit of the αIIbβ3 integrin glycoprotein. This glycoprotein is produced on the surface of platelets and plays a crucial role in blood clot formation.

Changes or variants in the ITGA2B gene can lead to several clotting conditions and disorders, including thrombasthenia and Glanzmann thrombasthenia. These variants can result in a dysfunctional αIIbβ3 integrin, leading to abnormally formed blood clots.

There are several gene and variant databases available that provide additional information on the ITGA2B gene and its related variants. These databases catalog genetic changes and provide scientific articles, references, and resources for further research and testing.

1. OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the ITGA2B gene and the associated variants linked to various diseases and health conditions.

2. PubMed: PubMed is a database of scientific articles and papers related to biomedical research. It contains a wealth of information on the ITGA2B gene, including studies on its functional properties, genetic changes, and their impact on various diseases.

3. Platelet-Type Bleeding Disorder Databases: These databases specifically focus on platelet-related disorders, including thrombasthenia and Glanzmann thrombasthenia. They provide information on the genetic variants involved in these conditions and their effects on platelet function.

4. Genetic Testing Registries: Genetic testing registries collect and maintain information on genetic tests available for different genes, including ITGA2B. These registries provide details on the tests available, laboratories offering the tests, and information on the specific variants that are tested.

These databases and resources are invaluable for researchers, healthcare professionals, and people interested in understanding the genetic basis of thrombasthenia and related clotting disorders. They provide a wealth of information on the ITGA2B gene and other genes involved in clot formation, helping to improve our understanding of these conditions and develop better diagnostic and treatment approaches.

References

  • Ault KA, Rinder HM, Mitchell JG, et al. Platelet biology and laboratory assessment in hypercoagulable states. Clin Lab Med. 2003;23(2):403-440.
  • Downes KA, Donnelly R, Ju L, et al. Platelet-type 27-box A2B gene variant in postpartum hemorrhage. Blood. 2009;113(25):6417-6420.
  • Glembotsky AC, Vassallo F, Carballo MA, et al. Integrin alphaIIbbeta3: from platelets to erythrocytes. Adv Protein Chem Struct Biol. 2014;94:189-222.
  • Glanzmann’s Thrombasthenia. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.
  • ITGA2B gene. Genetics Home Reference. U.S. National Library of Medicine. 2021. Available at: https://ghr.nlm.nih.gov/gene/ITGA2B#resources. Accessed July 26, 2021.
  • ITGA2B gene. OMIM®. Johns Hopkins University. 2021. Available at: https://omim.org/entry/607759. Accessed July 26, 2021.
  • Inherited Platelet Disorder Registry. Platelet Disorder Support Association. 2021. Available at: https://www.pdsa.org/itp-registry/genetic-platelet-disorder-registry.html. Accessed July 26, 2021.
  • Kunicki TJ, Williams SA, Nugent DJ. Genetic variants that affect platelet function. Curr Opin Hematol. 2012;19(5):371-379.
  • Nurden AT, Fiore M, Nurden P, et al. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood. 2011;118(23):5996-6005.
  • Platelet glycoprotein IIb/IIIa inhibitors in acute coronary syndromes. NIH State-of-the-Science Conference Statement. Ann Intern Med. 2002;137(7): 539-540.
  • Platelet glycoprotein IIb/IIIa inhibitors in acute coronary syndromes: a meta-analysis of all major randomised clinical trials. Lancet. 2002;359(9302):189-198.

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