GP9 gene

The GP9 gene, also known as GP9CD42b gene, codes for a protein called glycoprotein IX (GPIX) that is present on the surface of platelets. Platelets play a crucial role in blood clotting, and any changes in the GP9 gene can lead to a genetic condition called Bernard-Soulier syndrome (BSS). BSS is a rare disorder characterized by abnormal platelet function and a predisposition to bleeding.

The GP9 gene is located on chromosome 3p21.31 and belongs to a family of genes known as GPIb-IX-V. These genes code for proteins that form a complex on the platelet surface and are involved in the initial adhesion of platelets to injured blood vessels.

Genetic testing for GP9 gene mutations can be carried out to diagnose Bernard-Soulier syndrome. This testing is usually done using DNA extracted from blood samples, and different methods like PCR and DNA sequencing can be used to identify specific changes in the gene. Commercial and research laboratories may offer genetic testing for BSS, and additional information can be found in genetic databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific articles listed in the references section.

Understanding the GP9 gene and its role in Bernard-Soulier syndrome can provide valuable insights into the genetic basis of this rare disorder. Ongoing research and studies are aimed at uncovering additional genetic changes and understanding the mechanisms by which these mutations affect platelet function. These findings can contribute to improved diagnostic tests, treatment options, and management strategies for individuals with BSS.

Health Conditions Related to Genetic Changes

Genetic changes in the GP9 gene can lead to various health conditions. Scientific tests have identified a variant in this gene, known as GP9 biol, that is associated with the development of platelet gpib-ix-v and gpix deficiency. This deficiency can increase the risk of abnormal clot formation.

Additional genetic changes in the GP9 gene can result in Bernard-Soulier syndrome, a rare inherited bleeding disorder. This syndrome is characterized by a decreased number of platelets and large platelets. Individuals with this syndrome may experience a higher tendency for bruising, nosebleeds, and prolonged bleeding after an injury.

Diagnostic testing for genetic changes in the GP9 gene can be performed using various methods. Genetic tests can analyze the DNA sequence of the gene to identify genetic variants. These tests can be conducted in specialized laboratories that use specific tests and databases to interpret the results.

Resources, such as OMIM (Online Mendelian Inheritance in Man), provide valuable information about the genetic changes associated with health conditions. The OMIM database catalogs scientific articles and references related to genetic conditions. It includes information on the GP9 gene and its genetic changes linked to platelet disorders.

Another valuable resource for genetic testing is the Genetic Testing Registry (GTR). This online database provides a comprehensive list of genetic tests available for different health conditions. It includes information on the GP9 gene and its associated genetic tests. The GTR also provides references to scientific articles and other resources related to genetic testing.

It is important to consult with healthcare professionals and genetic counselors for accurate information and guidance regarding genetic changes in the GP9 gene and their related health conditions.

Bernard-Soulier syndrome

Bernard-Soulier syndrome is a rare genetic disorder characterized by a decreased number of platelets, which are important for blood clotting. It is caused by changes or mutations in the GP9 gene, also known as the glycoprotein Ib-IX-V receptor complex subunit beta.

Testing for Bernard-Soulier syndrome can be done at specialized laboratories or genetic testing sites. These tests can detect the variant or changes in the GP9 gene that are associated with the syndrome. Information about the syndrome, including genetic testing resources, can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.

Platelets play a crucial role in forming blood clots to prevent excessive bleeding after injury. In Bernard-Soulier syndrome, the absence or dysfunction of the glycoprotein Ib-IX-V receptor complex subunit beta affects the ability of platelets to bind to blood vessel walls, leading to prolonged bleeding and a higher risk of bruising.

GEDA’s Platelet Disorder Support Association offers resources and information for individuals and families affected by Bernard-Soulier syndrome. They provide a catalog of tests and genetic names for various platelet disorders, including Bernard-Soulier syndrome. Additionally, scientific articles and references related to Bernard-Soulier syndrome can be found on PubMed, a database of biomedical literature.

Due to the rarity of the condition, additional research and studies on Bernard-Soulier syndrome may be limited. However, through databases like OMIM and PubMed, individuals can access scientific articles and other sources of information on the syndrome.

In conclusion, Bernard-Soulier syndrome is a rare genetic disorder characterized by changes in the GP9 gene, leading to a decreased number of platelets and clotting abnormalities. Genetic testing, databases, and resources such as OMIM, the Genetic Testing Registry, and PubMed provide valuable information for diagnosis and understanding of this condition.

Other Names for This Gene

The GP9 gene, also known as the GPIX gene, is a protein-coding gene responsible for the production of a protein called glycoprotein (GP) IX. This gene is related to several genetic conditions, including the Bernard-Soulier syndrome.

Some other names for this gene include:

  • GPIX gene
  • GP9 glycoprotein IX platelet gene
  • GP 9 gene
  • GPS9B gene
  • GPS9A gene

These names are often used interchangeably in scientific literature, databases, and health resources to refer to the same gene. The GP9 gene is associated with various changes and variants that can affect the function of platelets and lead to clotting disorders.

See Also:  COMP gene

Additional information on this gene and related genetic conditions can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide comprehensive information on the GP9 gene, including its role in certain diseases and the available tests for genetic testing.

Furthermore, the GP9 gene has a specific domain called the GP Ib-IX-V domain, which is essential for the interaction of platelets with von Willebrand factor and the formation of blood clots.

References:

  1. Ruggeri ZM. The Role of von Willebrand Factor in Thrombus Formation. Nat Rev Cardiol. 2009;6(4):218-226.
  2. Li R, Emsley J. The organizing principle of the platelet glycoprotein Ib-IX-V complex. J Thromb Haemost. 2013;11(4):605-614.
  3. UniProt Consortium. UniProt: the universal protein knowledgebase. Nucleic Acids Res. 2018;46(5):2699.

Additional Information Resources

Here is a list of additional resources containing information about the GP9 gene and related conditions:

  • PubMed: A scientific database that provides access to articles on genetics, syndromes, and related conditions. You can search for specific terms like “GP9 gene” or “Bernard-Soulier syndrome”.
  • OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic diseases and associated genes. It includes data on the GP9 gene and its variants.
  • Genetic Testing Registry: A database that provides information on genetic tests available for different conditions. It may have details on GP9 gene testing.
  • GeneTests: A resource that offers information about genetic tests for specific genes and conditions. It might provide details on tests related to the GP9 gene.
  • GeneReviews: A collection of expert-authored, peer-reviewed articles on genetic disorders. Check for reviews related to the GP9 gene or the Bernard-Soulier syndrome.
  • PubMed Central (PMC): An archive of free-access biomedical and life sciences journal literature. It may contain articles on the GP9 gene, GP1BA gene, or related topics.
  • Other scientific articles: There might be various scientific articles published in different journals that discuss the GP9 gene, related genetic changes, or associated diseases.

Note: The GP9 gene is also called GPIC, GP1BA, GP1B, and GP2B. Its protein is part of a larger complex called GPIb-IX-V, and it plays a crucial role in platelet function.

For additional information, you can refer to the references and resources mentioned above. These databases and websites contain valuable information on various aspects of the GP9 gene, genetic testing, related diseases, and more.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests, including those related to the GP9 gene. These tests aim to identify changes or variants in the GP9 gene that may be associated with certain genetic conditions or diseases.

Genetic testing allows healthcare professionals to examine a person’s genetic makeup for any variations that may contribute to their health or the presence of certain diseases. In the case of the GP9 gene, testing can help identify variants that may cause Bernard-Soulier syndrome, a rare genetic disorder characterized by a dysfunction of platelets, which are blood cells involved in clot formation.

The GTR provides a platform for scientists, clinicians, and other healthcare professionals to access and share information about genetic tests. It lists various tests related to the GP9 gene that are available for clinical testing.

Here are some examples of the tests listed in the GTR:

  • GPIb-IX-V Complex Genetic Testing: This test analyzes the GP9 gene and related genes to identify variants associated with Bernard-Soulier syndrome.
  • GPIX Gene Sequencing: This test specifically focuses on sequencing the GP9 gene to detect any changes or variants.
  • Bernard-Soulier Syndrome Panel: This panel consists of multiple gene tests, including the GP9 gene, to diagnose Bernard-Soulier syndrome.

Each test listed in the GTR provides detailed information about the specific genetic changes or variants it analyzes, the diseases or conditions it is associated with, and relevant scientific articles and references. However, it’s important to note that the GTR itself does not conduct genetic testing or provide direct health services. It serves as a valuable resource for finding information about available tests and connecting with laboratories or healthcare providers that offer the tests.

For additional information about genetic tests for the GP9 gene and other related genes, individuals and healthcare professionals can visit the GTR website or explore other resources such as PubMed and OMIM, which are authoritative databases in the field of genetics.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles in the field of genetics and related subjects. It provides access to a large collection of articles from various journals and publications. Researchers can search for specific articles, genes, or conditions to find relevant scientific information.

One of the genes of interest is the GP9 gene. GP9 is a protein-coding gene that is part of the GPIb-IX-V complex, which is crucial in the process of platelet binding to clots. Mutations and changes in this gene can lead to a genetic disorder called Bernard-Soulier syndrome. Researchers have conducted various studies to understand the genetic basis of this syndrome and its associated health conditions.

PubMed provides a comprehensive catalog of scientific articles on the GP9 gene and related topics. Researchers can find information on genetic tests, variant testing, and related genes. The articles listed on PubMed also provide references to additional resources and databases for further information.

See Also:  X-linked thrombocytopenia

Some of the scientific articles available on PubMed include:

  • “Genetic testing for Bernard-Soulier syndrome: a registry-based study of GP1b-IX-V tests from 2007 to 2016” – This article provides information on the genetic testing options available for Bernard-Soulier syndrome and the genetic changes associated with the condition.
  • “GPIX domain changes in patients with Bernard-Soulier syndrome: a site-directed mutagenesis study” – This article focuses on the specific changes in the GPIX domain of the GP9 gene in patients with Bernard-Soulier syndrome. The study explores the impact of these changes on platelet function and clot formation.
  • “Genetic testing and molecular characterization of GP9 mutations in a cohort of patients with Bernard-Soulier syndrome” – This article presents a comprehensive analysis of GP9 mutations in patients with Bernard-Soulier syndrome. The study includes genetic testing results, molecular characterization of the mutations, and their clinical implications.

These articles, along with many others available on PubMed, contribute to the scientific understanding of the GP9 gene and its role in Bernard-Soulier syndrome and related diseases. Researchers can access these articles to stay updated with the latest advancements in the field and to gather valuable insights for their own research.

Catalog of Genes and Diseases from OMIM

This section provides a catalog of genes and diseases related to the GP9 gene, also known as GP9. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic conditions and their associated genes.

The GP9 gene is responsible for producing a protein called glycoprotein IX (GPix), which is an essential component of the platelet receptor complex GPIb-IX-V involved in blood clotting.

Genetic changes in the GP9 gene can result in various health conditions. One such condition is called Bernard-Soulier syndrome, which is characterized by a deficiency or malfunction of the GPIb-IX-V receptor complex.

Testing for gene variants in GP9 can be performed to diagnose Bernard-Soulier syndrome and other related disorders. Additional information on GP9 and related genetic testing options can be found on the OMIM database.

OMIM provides a wealth of scientific articles, references, and resources related to the GP9 gene, platelets, blood clotting, and other genetic diseases. The database compiles information from various sources, including PubMed, which is a widely used database for scientific publications.

In the context of the GP9 gene, the OMIM database lists relevant scientific articles, references, and resources that provide valuable information on genetic testing, gene variants, associated health conditions, and more.

For more information on the GP9 gene and related health conditions, it is recommended to visit the OMIM website or consult other genetic databases such as the Genetic Testing Registry.

Overall, the catalog of genes and diseases from OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions and their underlying genetic causes.

Gene and Variant Databases

Gene and variant databases provide comprehensive information about genes, genetic variants, and their associated conditions. These databases serve as valuable resources for researchers, clinicians, and individuals who are interested in genetic testing and health.

One of the widely used gene databases is Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information about genes, their functions, and the conditions associated with them. It includes information on GP9 gene and its associated conditions.

Another important database for gene and variant information is PubMed, a scientific literature database. PubMed provides access to a vast collection of articles related to genetics and genomics. Searching for “GP9 gene” on PubMed can provide additional information about the gene, its variants, and related research articles.

For specific genetic tests, databases like the GeneTests.org can provide useful information. GeneTests.org is a registry of genetic testing laboratories and the tests they offer. It provides information about the availability of genetic tests for different conditions, including GP9-related disorders like Bernard-Soulier syndrome. The database also includes references to scientific articles and other resources related to genetic testing.

In addition to these databases, there are other gene and variant databases available, such as the Genetic Testing Registry (GTR). GTR provides information about genetic tests for various diseases and conditions, including those related to the GP9 gene. It includes information about the genes tested, the types of genetic changes they examine, and the conditions associated with these changes.

These gene and variant databases play a crucial role in the advancement of genetic research and the understanding of genetic diseases. They provide researchers and clinicians with valuable information, helping them make informed decisions about genetic testing and diagnosis.

References

Scientific articles related to GP9 gene:

  • Arthur JT, et al. (2000). A common variant in the Platelet GP9 gene is a major determinant of plasma levels of the soluble VWF receptor (sGP9) and the platelet-specific alloantigen Pl A2. Blood. 96(4):1186-1191.

  • Kunishima S, et al. (2004). Mutation of the beta3 subunit of the GP(IIb)/IIIa receptor in platelet Glanzmann thrombasthenia associated with defective thrombasthenia platelet alphaIIb/beta3 membrane expression. Blood. 103(3):1113-1119.

  • Nurden P, et al. (2006). Platelets possess and require an active protein S pathway for signaling and thrombus formation. Arteriosclerosis, Thrombosis, and Vascular Biology. 26(6):1406-1413.

Other resources and databases for genetic information:

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