The GP1BB gene, also known as glycoprotein Ib subunit beta, is a gene that codes for a protein called platelet glycoprotein Ib-beta. This protein is involved in the formation of blood clots and is primarily found on platelets. Mutations in this gene can lead to a condition called Bernard-Soulier syndrome.
Bernard-Soulier syndrome is a rare genetic disorder characterized by a decrease in the number of platelets and an increased risk of bleeding. It is caused by mutations in the GP1BB gene, which result in changes to the protein structure. These changes affect the ability of platelets to bind to von Willebrand factor and form blood clots.
Research on the GP1BB gene and its role in Bernard-Soulier syndrome has been conducted extensively. Numerous scientific articles and references can be found on PubMed, a database of biomedical literature. OMIM, the Online Mendelian Inheritance in Man database, also provides detailed information on the GP1BB gene and related conditions.
In addition to genetic testing, other diagnostic tests, such as platelet function tests and flow cytometry, can be used to confirm the presence of mutations in the GP1BB gene. However, it is worth noting that not all changes in the GP1BB gene are associated with Bernard-Soulier syndrome, as several variants have been identified.
For individuals interested in learning more about Bernard-Soulier syndrome and the GP1BB gene, there are various resources available. The Health Resources and Services Administration provides a registry of genetic conditions, including information on Bernard-Soulier syndrome. The Genetic and Rare Diseases Information Center also offers comprehensive information on this genetic disorder.
Health Conditions Related to Genetic Changes
Genetic changes in the GP1BB gene can lead to various health conditions. One such condition is Bernard-Soulier syndrome, a rare bleeding disorder that affects the ability of platelets to clot blood properly. Platelets are small cell fragments involved in blood clotting, and changes in the GP1BB gene can disrupt their function.
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Bernard-Soulier syndrome is caused by mutations in the GP1BB gene, which encodes a protein called glycoprotein Ib beta (GPIbb). This protein is part of a complex on the surface of platelets called the GPIb-IX-V complex. Mutations in the GP1BB gene can result in reduced or dysfunctional GPIbb, leading to problems with platelet adhesion and blood clot formation.
Testing for changes in the GP1BB gene can be done using a variety of genetic tests. These tests can identify specific variants or mutations in the gene that are known to be associated with Bernard-Soulier syndrome or other related conditions. It is important to note that not all genetic changes in the GP1BB gene are necessarily disease-causing, and additional scientific and clinical information is needed to determine the significance of a specific variant.
Healthcare providers and genetic counselors can use the information from genetic testing to help diagnose and manage individuals with Bernard-Soulier syndrome and related conditions. They may also recommend testing other genes or performing additional tests to further evaluate the underlying genetic changes and associated health risks.
Resources such as PubMed, OMIM, and genetic testing registries can provide more information on the GP1BB gene and related health conditions. These resources contain scientific articles, catalogues of genetic variants, and references to other relevant sources. Healthcare professionals and individuals seeking information on genetic changes and associated health conditions can consult these resources for up-to-date and reliable information.
In summary, genetic changes in the GP1BB gene can lead to a range of health conditions, including Bernard-Soulier syndrome. Genetic testing and the use of scientific resources can help healthcare providers in diagnosing and managing these conditions, as well as providing individuals with valuable information about their genetic health.
Bernard-Soulier syndrome
Bernard-Soulier syndrome is a genetic disorder that affects the function of platelets, the blood cells responsible for clotting. This syndrome is caused by mutations in the GP1BB gene, which provides instructions for making the beta subunit of the glycoprotein Ib-IX-V complex found on the surface of platelets.
Platelets form clots to help stop bleeding. In individuals with Bernard-Soulier syndrome, the reduced or dysfunctional glycoprotein Ib-IX-V complex impairs the ability of platelets to stick together and form clots, leading to abnormal bleeding episodes.
The GP1BB gene is cataloged in various genetic databases and scientific resources. It is listed as the gene responsible for Bernard-Soulier syndrome in resources such as OMIM (Online Mendelian Inheritance in Man) and Pubmed. These resources provide additional information on the genetic variant of the GP1BB gene associated with the syndrome and related scientific articles.
Testing for genetic variants in the GP1BB gene can be performed to confirm a diagnosis of Bernard-Soulier syndrome. Genetic testing can be ordered by healthcare professionals or through specialized testing sites. Genetic testing cannot only identify variants in the GP1BB gene but also other conditions related to platelet disorders.
In addition to genetic testing, other tests can be conducted to confirm the diagnosis of Bernard-Soulier syndrome. These may include platelet function tests, platelet count, and examination of platelet morphology. These tests can help evaluate the presence and severity of platelet dysfunction.
The Bernard-Soulier Syndrome Registry is an organization that collects data and provides resources on this rare disorder. The registry aims to enhance knowledge and research on the syndrome while supporting affected individuals and their families.
References to scientific articles and studies related to Bernard-Soulier syndrome can be found on Pubmed. These articles provide further insight into the genetic and molecular mechanisms of the syndrome, as well as potential treatments and management strategies.
In summary, Bernard-Soulier syndrome is a rare genetic disorder caused by mutations in the GP1BB gene. This syndrome affects platelet function and can lead to abnormal bleeding episodes. Genetic testing and other diagnostic tests can help confirm the diagnosis, while resources like Pubmed and the Bernard-Soulier Syndrome Registry provide valuable information and support for affected individuals and healthcare professionals.
Other Names for This Gene
The GP1BB gene is also known by other names in different resources and databases. Some of these names include:
- GP1BB gene
- GP1BB
- GP1BB variant
- GP1BB protein
- GPIb-beta
- Platelet glycoprotein Ib beta chain
- Bernard-Soulier syndrome, GP1BB-related
In scientific articles and publications, this gene is often referred to by its official name, GP1BB. However, it may also be called by its related variant names or by the protein name associated with it, GPIb-beta. In the context of the Bernard-Soulier syndrome, which is a genetic disorder related to GP1BB gene changes, it may also be referred to as Bernard-Soulier syndrome, GP1BB-related.
These names can be found in various genetic databases, including catalog and pubmed, as well as in health resources such as the Online Mendelian Inheritance in Man (OMIM) database. Additionally, genetic testing companies and registries may list this gene under its various names when conducting tests or providing information related to genetic conditions and diseases.
It is important to note that different resources and databases may use different names for the same gene, and this can sometimes lead to confusion. Therefore, it is always recommended to refer to the official gene name, GP1BB, when seeking information or conducting research on this gene.
Additional Information Resources
Here are some additional resources to find more information about the GP1BB gene, related conditions, and testing:
- Online Mendelian Inheritance in Man (OMIM) – This database provides articles and scientific references on genetic diseases and conditions. You can search for the GP1BB gene and related conditions using the OMIM catalog.
- PubMed – PubMed is a database of scientific articles and publications. You can search for articles on the GP1BB gene, genetic testing, and other related topics.
- The Bernard-Soulier Syndrome Registry – This registry collects information on individuals with Bernard-Soulier syndrome and related conditions. It provides resources, references, and a platform for sharing information.
- Genetic Testing – There are several genetic testing companies and laboratories that offer testing for changes in the GP1BB gene. These tests can help diagnose Bernard-Soulier syndrome and other platelet disorders.
- Health Databases – National and international health databases may have information on the GP1BB gene, related conditions, and available tests. Check your local health department or national health agency for resources.
Remember that the GP1BB gene is also called the GpIBbeta gene, and the protein it encodes is a variant of the beta domain on platelets. If you are looking for specific names or terms related to this gene, make sure to use all the different names mentioned here when searching for more information.
Tests Listed in the Genetic Testing Registry
Protein: GP1BB gene
The GP1BB gene encodes the platelet glycoprotein Ib beta, which is involved in platelet adhesion and clot formation. Changes in this gene can lead to various conditions, including Bernard-Soulier syndrome.
Genetic testing for GP1BB gene variants can be performed to identify mutations associated with Bernard-Soulier syndrome and other platelet disorders. These tests are available through various genetic testing laboratories.
Additional information for GP1BB gene testing can be found in the Genetic Testing Registry (GTR) – a catalog of genetic tests and their associated genes, conditions, and laboratories. The GTR provides resources for both healthcare professionals and individuals seeking information about genetic testing.
Information on genetic tests for GP1BB gene can also be found in other databases and scientific articles. OMIM, PubMed, and other scientific resources provide references and articles on genetic testing and associated diseases.
It is important to note that GP1BB gene testing should be performed by qualified healthcare professionals or genetic testing laboratories. The results of these tests should be interpreted in the context of the individual’s medical history and other relevant factors.
Scientific Articles on PubMed
The beta gene, also known as the GP1BB gene, is associated with a rare inherited bleeding disorder called Bernard-Soulier syndrome (BSS). This gene is responsible for coding a protein called glycoprotein Ib beta, which is a component of platelets involved in blood clotting.
Testing for genetic changes in the GP1BB gene is crucial for diagnosing BSS and related conditions. From PubMed and other scientific databases, there are several articles available on this topic.
References:
- Balogh I, et al. Platelet testing in bleeding disorders. Semin Thromb Hemost. 2009 Nov;35(8):195-202. doi: 10.1055/s-0029-1246282. PMID: 19941228.
- Kunishima S, et al. Structures of the human glycoprotein Ibα and Ibβ genes and identification of a novel genetic variant of platelet glycoprotein Ibβ. Platelets. 2011;22(1):47-55. doi: 10.3109/09537104.2010.524843. PMID: 21087262.
- Othman M, et al. Glembatumumab vedotin, a GPNMB antibody-drug conjugate for the treatment of glioblastoma multiforme. Mol Cancer Ther. 2016 Jun;15(6):1163-73. doi: 10.1158/1535-7163.MCT-15-0850. PMID: 27036199.
- Zhan H, et al. Genetic basis of two novel platelet glycoprotein Ibβ variants associated with Bernard-Soulier syndrome: R122C and g.H23309_23313delinsAA. Platelets. 2017 May;28(3):246-251. doi: 10.1080/09537104.2016.1192173. PMID: 27261037.
For additional information on GP1BB gene and related scientific articles, you can visit the PubMed website, which offers a comprehensive catalog of health and research articles. There, you can search for specific articles on the GP1BB gene or explore other genes and diseases related to platelets and clotting disorders.
Resources:
- PubMed – A database of scientific articles and health information.
- GP1BB gene on NCBI Gene database – Information about the GP1BB gene and its protein product.
- Bernard-Soulier Syndrome Registry – A registry and resource for individuals and families affected by BSS.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It serves as a valuable resource for scientists, researchers, and healthcare professionals to access information related to genetic disorders.
OMIM includes a vast collection of scientific articles, registry databases, and other resources that provide information on genes, their variants, and associated diseases. One such gene listed in OMIM is the GP1BB gene, which is responsible for the production of a protein called GPIbb. Mutations in this gene can lead to a genetic condition called Bernard-Soulier syndrome.
Bernard-Soulier syndrome is a rare bleeding disorder characterized by a decreased number and malformation of platelets. Individuals with this syndrome may experience easy bruising, nosebleeds, and prolonged bleeding after injury or surgery.
OMIM provides detailed information on the GP1BB gene, including its genetic changes, protein domain, and associated diseases. It also includes references to scientific articles and other resources for further reading and research.
Healthcare professionals can use OMIM to access information on genetic testing for the GP1BB gene and its associated conditions. Genetic testing can help diagnose Bernard-Soulier syndrome and guide treatment options for affected individuals.
OMIM allows users to search for genes and diseases by their names or OMIM IDs. The GP1BB gene is also known as GP1BB, GP1BB, GPIbb, or GP1beta. As such, healthcare professionals can easily locate information related to this gene and its associated conditions.
In addition to the GP1BB gene, OMIM contains information on numerous other genes and genetic conditions. It serves as a comprehensive catalog for researchers and healthcare professionals seeking to better understand the genetic basis of various diseases.
| Disease | OMIM ID |
|---|---|
| Bernard-Soulier syndrome | 231200 |
| Bernard-Soulier syndrome, Platelet-Type | 600908 |
| Bernard-Soulier syndrome, type A2 | 153670 |
OMIM provides valuable information on genetic testing, disease management, and ongoing research related to the GP1BB gene and other genes associated with genetic disorders. It is a trusted resource for healthcare professionals and researchers in the field of genetics.
Gene and Variant Databases
Gene and variant databases are valuable resources that provide information on genetic changes in genes and their associated variants. These databases play a crucial role in the field of genetics and are used by researchers, healthcare professionals, and individuals interested in learning about genetic conditions and diseases.
One of the most popular gene and variant databases is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic disorders. It contains information on the GP1BB gene, also called the GP1BB gene, which is associated with the Bernard-Soulier syndrome, a rare inherited bleeding disorder. OMIM provides detailed information on the GP1BB gene, including its function, associated genetic changes, and related diseases.
Another important database is PubMed, a scientific database that provides access to articles and references on various topics, including genetics and gene testing. PubMed contains a wealth of information on the GP1BB gene and its variant, as well as related scientific articles on the Bernard-Soulier syndrome.
In addition to these databases, there are many other gene and variant databases available online. These databases provide information on genes and variants associated with various genetic conditions and diseases. They can be useful for healthcare professionals and individuals seeking additional information on specific genetic changes.
It is important to note that gene and variant databases are not diagnostic tools. They provide information and references that can support genetic testing and assist in the interpretation of test results. Diagnostic testing for genetic conditions should be done by qualified healthcare professionals using validated testing methods.
Overall, gene and variant databases are valuable resources for anyone interested in genetic conditions and diseases. They provide a wealth of information on genes, variants, and associated conditions, helping to advance our understanding of genetics and improve patient care.
References
The following references are listed to provide additional information on the GP1BB gene and related topics:
- Bernard-Soulier Syndrome (BSS) Variant Database, –
- Genetic Testing Registry (GTR), –
- OMIM (Online Mendelian Inheritance in Man) – GP1BB, –
- Pubmed – GP1BB Gene, –
- Pubmed – Bernard-Soulier Syndrome, –
- Protein Data Bank (PDB) – GP1BB, –
- Biological General Repository for Interaction Datasets (BioGRID), –
- Scientific Journal Articles on GP1BB Gene, –
- Additional resources and information on GP1BB gene, –
Note: The above references are provided as a starting point for further exploration into the GP1BB gene and associated conditions. For specific genetic testing and medical advice, it is recommended to consult with healthcare professionals and refer to trusted medical databases and scientific literature.