GP6 gene

The GP6 gene is responsible for encoding the glycoprotein VI (GPVI) receptor on platelets. Mutations in this gene can cause GPVI deficiency, a genetic condition that affects the function of platelet receptors.

GPVI deficiency is associated with a variety of conditions and diseases, including thrombocytopenia, a condition characterized by low levels of platelets in the blood. Additional conditions listed in the genetic registry OMIM include Bernard-Soulier syndrome, a rare bleeding disorder, and immune thrombocytopenia, a condition where the immune system mistakenly destroys platelets.

Research on the GP6 gene and its variants has been documented in scientific databases such as PubMed and OMIM. These resources provide information on the genetic changes associated with GPVI deficiency, as well as tests and other diagnostic methods for identifying these changes.

Citation and references related to GP6 gene testing and the role of GPVI receptors in haemostasis can be found in scientific articles and publications. Health information on GPVI deficiency and related conditions can be found through public health resources.

In conclusion, the GP6 gene encodes the GPVI receptor on platelets and its deficiency can lead to various conditions and diseases. Scientific databases, such as PubMed and OMIM, provide additional information on the genetic changes and testing methods associated with GPVI deficiency.

Health Conditions Related to Genetic Changes

Genetic changes in the GP6 gene are associated with several health conditions. The GPVI (or GP6) gene is a glycoprotein on the surface of platelets that plays a crucial role in the formation of blood clots. Genetic variations in this gene can lead to deficiencies or abnormalities in the GPVI receptor and affect the functioning of platelets.

Some of the health conditions related to genetic changes in the GP6 gene include:

  • Bernard-Soulier syndrome: This is a rare genetic disorder characterized by a deficiency of the GPVI receptor on platelets. It can lead to abnormal bleeding and bruising.
  • Thrombocytopenia: Genetic changes in the GP6 gene can cause a decrease in the number of platelets in the blood, leading to a condition called thrombocytopenia. This can result in abnormal bleeding and easy bruising.
  • Other platelet disorders: Genetic changes in GP6 can also contribute to other platelet disorders, such as Glanzmann thrombasthenia, in which platelets fail to stick together to form clots.

Scientific resources and databases like OMIM (Online Mendelian Inheritance in Man), PubMed, and the Haemostasis and Thrombosis Genetic Testing Registry provide additional information on these health conditions related to genetic changes in the GP6 gene. These resources offer comprehensive catalogs of genetic changes, associated diseases, testing methods, and references to scientific articles.

If you suspect any genetic changes or have concerns about your health, it is advised to consult a healthcare professional for appropriate testing, diagnosis, and management of your condition.

Glycoprotein VI deficiency

Glycoprotein VI deficiency is a genetic condition associated with abnormalities in the GP6 gene. This gene provides instructions for making the glycoprotein VI (GPVI) receptor, which is found on the surface of platelets, a type of blood cell involved in the clotting process.

Clinical Features:

  • Glycoprotein VI deficiency is characterized by a reduced or absent GPVI receptor on the surface of platelets.
  • Individuals with this deficiency may experience abnormal bleeding and bruising, as well as an increased risk of bleeding episodes.

Genetic Changes:

  • Glycoprotein VI deficiency is caused by mutations in the GP6 gene. These mutations can lead to a reduced or nonfunctional GPVI receptor.
  • Several genetic variants in the GP6 gene have been identified in individuals with glycoprotein VI deficiency.

Testing and Diagnosis:

  • Genetic testing can be performed to identify mutations in the GP6 gene and confirm a diagnosis of glycoprotein VI deficiency.
  • Additional tests, such as platelet function tests, may also be conducted to evaluate the function of platelets in individuals with suspected GPVI deficiency.

Treatment and Management:

  • There is currently no specific treatment for glycoprotein VI deficiency.
  • Management of this condition typically involves monitoring for bleeding symptoms and providing appropriate medical interventions as needed.

Related Resources:

  • For articles and scientific publications on GP6 gene and glycoprotein VI deficiency, refer to resources such as PubMed.
  • OMIM and other genetic databases can provide additional information on the genetic changes associated with glycoprotein VI deficiency.
  • The Thromb Haemost Registry is a valuable resource for information on genetic conditions related to thrombosis and hemostasis.
  • Health websites and online resources can also provide useful information on glycoprotein VI deficiency and related diseases.

Other Names for This Gene

  • GP6 gene: This gene is also known as GP6, glycoprotein VI, and GPVI. It is a receptor for platelets.
  • Thromb omim 1: GP6 gene is listed in the Thrombase registry of genetic changes related to thrombosis and haemostasis.
  • gpVI deficiency: Genetic variant or deficiency in this gene can lead to platelet disorders.
  • Other names: The GP6 gene may come under different names in other databases and scientific articles. Some additional names for this gene include glycoprotein VI and glycoprotein 6.
See Also:  CDKN1C gene

More information about this gene, including genetic testing and related conditions, can be found in the following resources:

  • PubMed: The National Library of Medicine’s database provides extensive information on this gene.
  • OMIM: The Online Mendelian Inheritance in Man database contains detailed information on genetic disorders and their associated genes.
  • GeneReviews: A collection of peer-reviewed articles that provide in-depth knowledge on various genetic conditions.
  • Genetic Testing Registry: A database of genetic testing laboratories and the genetic tests they offer.

Additional Information Resources

  • For scientific articles related to GP6 gene, health, thromb, and haemost, you can refer to the PubMed database. It provides a comprehensive catalog of articles on genetic variants, genetic testing, and other related topics.
  • If you are interested in learning more about the GP6 gene and its role in blood disorders such as platelet deficiency or diseases related to blood clotting, you can visit the Online Mendelian Inheritance in Man (OMIM) database. It provides detailed information on genes, genetic variants, and associated diseases.
  • Another valuable resource is the GPVI Registry, which focuses specifically on glycoprotein VI (GPVI)-related diseases. It provides information on genetic changes, testing options, and the latest research in this field.

These resources will come in handy if you are looking for additional information on GP6 gene, genetic testing, and related diseases. Make sure to check the references and citations listed in the articles for further exploration.

Tests Listed in the Genetic Testing Registry

Below is a list of tests related to the GP6 gene, also known as glycoprotein VI. This glycoprotein is found on the surface of platelets and plays a crucial role in blood clotting.

The information in this section is based on listings in the Genetic Testing Registry (GTR), a resource provided by the National Institutes of Health (NIH). The reference numbers provided can be used to find additional information and scientific articles related to the listed tests.

– GPVI deficiency: This test is used to identify mutations or changes in the GP6 gene that result in GPVI deficiency, a condition that affects platelet function and can lead to abnormal bleeding. It is also known as thrombocytopathy.

– GP6 gene variant testing: This test is used to identify specific variants or changes in the GP6 gene, which may be associated with various blood disorders and platelet abnormalities.

For more detailed information and specific test names, please refer to the GTR website or consult with a healthcare professional.

References:

  • GTR – Genetic Testing Registry. Available at: [insert GTR website]
  • OMIM – Online Mendelian Inheritance in Man. Available at: [insert OMIM website]
  • PubMed – National Library of Medicine. Available at: [insert PubMed website]

Note: This list may not be exhaustive, and there may be other tests and resources available related to the GP6 gene and its associated conditions. It is always recommended to consult with a healthcare professional or genetic counselor for personalized information and guidance.

Scientific Articles on PubMed

With the GP6 gene and its associated receptor protein, GPVI, being implicated in various blood conditions and haemostatic disorders, there are several scientific articles available on PubMed that provide valuable information on this genetic deficiency. These articles serve as valuable resources for further understanding the role of the GP6 gene in health and disease.

References listed on PubMed include studies that investigate variant changes in the GP6 gene and their impact on platelet function, as well as articles that explore the genetic basis of certain diseases related to GPVI deficiency. By accessing the PubMed database, researchers and healthcare professionals can find articles that provide detailed information on the genetic and molecular mechanisms underlying platelet disorders associated with GP6 gene mutations.

One useful resource is the OMIM database, which provides comprehensive information on genetic diseases and their associated genes. By searching for the GP6 gene in OMIM, users can access additional related information, including disease names, genetic changes, and available tests for GPVI deficiency.

In addition, the Registry of Thrombosis and Haemostasis offers a registry called the GPVI Platelet Receptor for Prothrombotic Conditions, which compiles relevant information on GPVI genetic variants and their potential implications for thrombosis and platelet function.

By exploring the scientific articles available on PubMed, healthcare professionals and researchers can gain insights into the genetic factors influencing platelet function and their relevance to various diseases. The information provided in these articles can contribute to the development of better diagnostic tests and therapeutic strategies for individuals with GPVI deficiency.

  • Scientific articles on PubMed provide valuable information on the GP6 gene and the associated receptor protein GPVI
  • These articles serve as resources for understanding the genetic basis of platelet disorders and related conditions
  • PubMed references include studies on variant changes in the GP6 gene and their impact on platelet function
  • The OMIM database offers additional information on genetic diseases related to GPVI deficiency
  • The Registry of Thrombosis and Haemostasis provides a specific registry for GPVI genetic variants
See Also:  SLC40A1 gene

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genetic diseases and the associated genes. OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions.

OMIM provides information on thousands of genes and their related diseases. The catalog includes both well-known genes and rare genetic variants. One example of a gene listed in OMIM is the GP6 gene, which is associated with a condition called GPVI deficiency. This gene codes for a glycoprotein receptor on platelets that is involved in haemostatic processes.

Each gene entry in OMIM provides detailed information, including the gene’s name, aliases, chromosome location, genetic changes, and the associated diseases. The catalog also includes information on the proteins coded by the gene and their functions.

OMIM is a user-friendly resource that allows users to search for genes and diseases using keywords, advanced search options, and cross-references to other genetic databases. Additionally, each entry in the catalog provides links to related articles on PubMed and additional resources for further scientific investigation.

Researchers and healthcare professionals can use this catalog to identify genes associated with specific diseases, understand the underlying genetic changes, and develop targeted genetic tests. The information provided in OMIM can also be helpful for individuals interested in their own genetic health or concerned about specific conditions.

By maintaining an up-to-date catalog of genes and diseases, OMIM contributes to advancements in medical knowledge and facilitates better understanding and management of genetic conditions. Users can rely on the accuracy and reliability of the information provided in OMIM due to the strict review and citation process of the articles and references included in the catalog.

In summary, the catalog of genes and diseases from OMIM is a valuable resource for genetic research, healthcare professionals, and individuals seeking information about genetic conditions. The comprehensive and organized nature of the catalog makes it an essential tool for understanding the genetic basis of various health conditions and conducting further scientific investigations.

Gene and Variant Databases

Gene and variant databases are valuable resources with information about genes and variants associated with various health conditions and diseases. These databases provide a comprehensive catalog of genes and their genetic changes, also known as variants or mutations, that have been implicated in specific diseases or conditions.

One of the well-known gene databases is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive database of human genes and genetic disorders. OMIM provides detailed information on genes, genetic changes, and associated diseases. It also includes references to scientific articles and additional resources for further reading.

For blood-related disorders, a specific database called the Human Gene Mutation Database (HGMD) is available. It focuses on genetic changes associated with blood disorders such as thrombocytopenia and haemostatic defects. The GP6 gene, which codes for the glycoprotein VI receptor on platelets, is listed in this database, along with the associated genetic changes and their effects on health.

Another important resource for genetic information is the National Center for Biotechnology Information (NCBI) gene database. It provides a comprehensive catalog of genes and their genetic variants, along with information on gene function, expression, and related diseases. NCBI gene database also includes links to other resources such as PubMed for accessing scientific articles and citations for further research.

In addition to these databases, there are also variant-specific databases available. These databases focus on specific variants or mutations and provide detailed information about their clinical significance, prevalence, and associated health conditions. One example is the Leiden Open Variation Database (LOVD), which catalogues genetic variants and their association with various diseases.

Overall, gene and variant databases are crucial tools for researchers, healthcare professionals, and individuals interested in genetic testing and understanding the genetic basis of diseases. These databases provide a wealth of information that can help in the diagnosis, treatment, and management of various health conditions.

References

  1. Scientific Registry of Listed Genetic Testing Laboratories (2015),

    receptor C-mediated platelet activation, GP6,

    OMIM (Online Mendelian Inheritance in Man),

    https://www.ncbi.nlm.nih.gov/omim/605546.

  2. GP6 Gene – Genetics Home Reference,

    U.S. National Library of Medicine,

    https://ghr.nlm.nih.gov/gene/GP6.

  3. GP6 – Platelet glycoprotein VI,

    PubMed,

    https://pubmed.ncbi.nlm.nih.gov/gp6/.

  4. Catalog of Genes and Diseases,

    National Institutes of Health,

    https://www.ncbi.nlm.nih.gov/gene/51206.

  5. Testing for GP6 Gene Change,

    The American Society of Hematology,

    https://www.hematology.org/testing/clinical/platelet-disorders/epit-test/gp6-change.

  6. Platelet Metabolic Pathways,

    The Platelet Disorder Support Association,

    https://platelets.org/disorders/disorder/other-platelet-disorders/platelet-production/gpvi-deficiency/.

RECOMMENDED