The SERPINC1 gene, also known as the antithrombin III (ATIII) gene, is a gene responsible for producing a protein called antithrombin. Antithrombin is a natural anticoagulant that helps prevent blood clotting in the bloodstream. Mutations in the SERPINC1 gene can lead to hereditary deficiency of antithrombin, a condition that increases the risk of developing blood clotting diseases and conditions.
The SERPINC1 gene is located on chromosome 1 and consists of 7 exons that encode the protein sequence for antithrombin. The gene provides instructions for the production of antithrombin, which works to inactivate multiple blood clotting enzymes, including thrombin. Thrombin is a key player in the blood coagulation process, and its inactivation by antithrombin helps maintain normal blood flow.
Scientific research on the SERPINC1 gene is available in various databases and resources, such as the OMIM (Online Mendelian Inheritance in Man) catalog, PubMed, and other genetic databases. These resources provide information on genetic changes, variants, and other related conditions associated with the SERPINC1 gene.
Testing for mutations in the SERPINC1 gene can be performed to diagnose hereditary deficiencies of antithrombin. This genetic testing can be useful for individuals with a family history of blood clotting disorders or for those who have experienced recurrent blood clots without any known risk factors. Results from genetic testing can help inform treatment decisions and provide valuable information for managing the condition effectively.
Health Conditions Related to Genetic Changes
The SERPINC1 gene provides instructions for making a protein called antithrombin III. This protein is part of a group of proteins that prevent abnormal blood clotting by inactivating certain enzymes involved in the clotting process, such as thrombin.
Genetic changes in the SERPINC1 gene can lead to a condition known as hereditary antithrombin deficiency. This condition is divided into type I and type II, based on the severity and nature of the genetic changes.
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In hereditary antithrombin deficiency, the antithrombin III protein does not function properly, increasing the risk of abnormal blood clotting. This can result in a variety of health conditions, including:
- Deep vein thrombosis (DVT): the formation of a blood clot in a deep vein, usually in the legs
- Pulmonary embolism: a blood clot that travels to the lungs
- Arterial thrombosis: the formation of a blood clot in an artery, which can lead to stroke or heart attack
- Recurrent pregnancy loss: the loss of two or more consecutive pregnancies
There are several scientific resources and databases available for additional information on health conditions related to genetic changes in the SERPINC1 gene. These resources include:
- Genetic Testing Registry: provides information on genetic tests available for hereditary antithrombin deficiency
- OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders
- PubMed: a database of scientific articles and references
Testing for genetic changes in the SERPINC1 gene can help diagnose hereditary antithrombin deficiency and guide treatment decisions. It is important to consult with a healthcare professional for more information and appropriate testing.
Hereditary antithrombin deficiency
Hereditary antithrombin deficiency is a genetic condition that affects the normal function of the SERPINC1 gene. This gene provides instructions for making a protein called antithrombin, which is involved in the regulation of blood clotting.
Genetic changes in the SERPINC1 gene can lead to a decreased production of antithrombin or to the production of a variant that is unable to inactivate certain clotting factors, such as thrombin. This puts individuals with hereditary antithrombin deficiency at an increased risk of developing blood clotting disorders.
Hereditary antithrombin deficiency can be divided into two main types: type I and type II. Type I deficiency is characterized by a reduced production of antithrombin, while type II deficiency is characterized by the production of a dysfunctional variant.
This condition is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. However, not all individuals with a mutation in the SERPINC1 gene will develop symptoms of antithrombin deficiency.
Testing for hereditary antithrombin deficiency involves analyzing the SERPINC1 gene for genetic changes. This can be done through specialized genetic tests, which are available in certain laboratories and clinics. Several registries and databases, such as OMIM and PubMed, provide information on the genetic changes associated with hereditary antithrombin deficiency.
In addition to genetic testing, other diagnostic tests may be performed to evaluate the levels and activity of antithrombin in the bloodstream. These tests can help confirm a diagnosis of hereditary antithrombin deficiency and rule out other conditions with similar symptoms.
Managing hereditary antithrombin deficiency involves understanding the risks associated with blood clotting disorders and taking appropriate measures to prevent them. This may include the use of anticoagulant medications, such as heparin, to reduce the risk of blood clots.
It is important for individuals with hereditary antithrombin deficiency to stay informed about the latest research and resources available for managing their condition. Scientific articles, clinical trials, and healthcare organizations can provide additional information and support for individuals and families affected by hereditary antithrombin deficiency.
References:
- 1. PubMed
- 2. OMIM
- 3. Catalog of Human Genetic Diseases
Other Names for This Gene
- Antithrombin III
- AT III
- SERPINC1
- AT1
- Antithrombin III, protein-coding
- Antithrombin-III
- Antithrombin-III, protein-coding
The SERPINC1 gene, also known as Antithrombin III or AT III, is a protein-coding gene involved in the regulation of blood clotting. This gene is a member of the serpin family of genes, which produce proteins that inhibit certain enzymes involved in blood clotting, such as thrombin.
Antithrombin III plays a crucial role in maintaining the balance between clotting and preventing excessive clot formation. Mutations or changes in the SERPINC1 gene can lead to a deficiency in antithrombin III, a condition known as hereditary antithrombin III deficiency.
Hereditary antithrombin III deficiency increases the risk of blood clots, which can lead to serious health conditions such as deep vein thrombosis (DVT) or pulmonary embolism. Testing for genetic variants in the SERPINC1 gene can provide additional information on an individual’s risk for these conditions.
References to the SERPINC1 gene can be found in scientific literature, databases, and resources such as PubMed and OMIM. These resources provide information on the role of antithrombin III and the genetic changes associated with its deficiency.
The SERPINC1 gene is divided into different parts or exons, each responsible for producing a specific part of the antithrombin III protein. Variants in different exons can result in different forms of the condition, with varying severity and clinical features.
Patients with hereditary antithrombin III deficiency may present with symptoms such as recurrent blood clots or a family history of the condition. Genetic testing can help confirm the diagnosis and guide treatment options.
In summary, the SERPINC1 gene, also known as Antithrombin III, is a protein-coding gene involved in preventing blood clot formation. Mutations or changes in this gene can lead to hereditary antithrombin III deficiency and an increased risk of clotting-related conditions. Testing for genetic variants in this gene can provide valuable information for healthcare professionals and individuals concerned about their risk of blood clotting diseases.
Additional Information Resources
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Genetic Testing: There are several genetic testing resources available to diagnose and confirm a SERPINC1 gene variant. These tests can help identify the specific variant causing the antithrombin deficiency and determine if it is hereditary or acquired.
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OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genetic diseases and related genes. It contains information on the SERPINC1 gene and its variants, as well as other conditions that may be associated with antithrombin deficiency.
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Scientific Articles: Scientific articles published in peer-reviewed journals can provide valuable information on the SERPINC1 gene, its function, and the role it plays in antithrombin deficiency. PubMed is a commonly used resource for accessing these articles.
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Heparin Resistance Registry: The Heparin Resistance Registry is a database that collects information from individuals who have experienced heparin resistance. It may contain data on antithrombin deficiency and its genetic causes.
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Genetic Resources: Genetic resources focused on antithrombin deficiency can provide additional information on the condition, including its inheritance patterns, risk factors, and available treatment options.
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Health Websites: Several health websites provide information on antithrombin deficiency, its symptoms, and available treatment options. These websites often include information on the genetic aspects of the condition and may provide links to further resources.
Tests Listed in the Genetic Testing Registry
Genetic Testing Registry is a comprehensive catalog of genetic tests that are available for various diseases and conditions. The registry provides information on different genes, including the SERPINC1 gene, and their related variants. The tests listed in the Genetic Testing Registry are divided into different categories based on the genetic changes associated with the diseases or conditions.
The SERPINC1 gene, also known as antithrombin, is responsible for producing a protein called antithrombin, which plays a crucial role in regulating blood clotting. Deficiency in antithrombin can lead to an increased risk of thrombin, a key enzyme involved in blood clotting, which can result in various health conditions.
Tests listed in the Genetic Testing Registry for the SERPINC1 gene include:
- Antithrombin Deficiency Genetic Testing: This test assesses the presence of genetic variants in the SERPINC1 gene that can cause antithrombin deficiency. It helps determine whether an individual has a higher risk of developing blood clots.
- Thrombin Generation Testing: This test measures the amount of thrombin generated in the bloodstream. It can help evaluate the function of antithrombin and diagnose conditions associated with antithrombin deficiency.
- Heparin Cofactor Assay: This test measures the ability of antithrombin to inactivate thrombin in the presence of heparin, a medication used for preventing blood clots. It helps assess the effectiveness of antithrombin in regulating blood clotting.
Additional information on the tests listed in the Genetic Testing Registry can be found in various resources, including scientific articles, databases, and health-related websites. These resources provide detailed information on the genetic changes, associated conditions, and testing methodologies.
Some of the resources that can be used to gather more information about the SERPINC1 gene and related tests include:
- Online Mendelian Inheritance in Man (OMIM): This database provides comprehensive information about genes and genetic disorders, including antithrombin deficiency.
- PubMed: This database contains a vast collection of scientific articles related to genetics and various health conditions. It can be used to find research papers and references on antithrombin deficiency.
- Genetic Testing Registry: This database is a valuable source of information on genetic tests available for different genes and conditions. It provides details about the testing laboratories and available testing methods.
By exploring the resources listed above, individuals can gain a better understanding of the SERPINC1 gene, the tests available for related conditions, and the implications of genetic changes in antithrombin production.
Scientific Articles on PubMed
The SERPINC1 gene is associated with various diseases and conditions that require testing for its hereditary variants. This gene encodes a protein known as antithrombin, which helps regulate the clotting of blood. Mutations in the SERPINC1 gene can lead to a deficiency of antithrombin, putting individuals at a higher risk for thrombin-related conditions.
PubMed, a key resource for scientific articles, catalogs information on the SERPINC1 gene and its related conditions. In the PubMed database, you can find a wealth of articles related to this gene and its role in various diseases. These articles provide valuable insights into the genetic changes associated with antithrombin deficiency and the implications for individual health.
The SERPINC1 gene is divided into different variants, each of which is associated with specific hereditary conditions. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of these variants, including information on their impact on antithrombin levels and the corresponding diseases.
In addition to PubMed and OMIM, other genetic databases and resources are available to further explore the role of the SERPINC1 gene. These resources provide additional scientific articles, genetic data, and references related to antithrombin deficiency and its associated conditions.
The normal function of antithrombin is to inactivate thrombin and other proteinases in the bloodstream, preventing excessive blood clotting. Genetic variants in the SERPINC1 gene can disrupt this function, leading to an increased risk of thrombotic events.
Scientific articles on PubMed cover a wide range of topics related to the SERPINC1 gene, including the discovery of new genetic changes, the development of diagnostic testing methods, and the exploration of potential therapeutic interventions. These articles contribute to our understanding of antithrombin deficiency and its link to various diseases.
By referencing articles from PubMed and other scientific databases, researchers and healthcare professionals can stay up to date with the latest advancements in the field of antithrombin deficiency and its related conditions. This knowledge can help improve diagnosis, treatment, and management strategies for individuals with genetic variations in the SERPINC1 gene.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a registry that provides information about genetic conditions and their related genes. It is divided into different sections based on the genes and conditions listed. This catalog serves as a valuable resource for scientific research, testing, and health information.
Each gene and its related diseases are listed with their OMIM numbers, which can be used to access more detailed information. The catalog also includes information about hereditary conditions caused by changes in the listed genes.
One of the genes listed in this catalog is the SERPINC1 gene. It is a member of the proteinase inhibitor (serpin) superfamily and is primarily responsible for producing the antithrombin protein. Antithrombin plays a crucial role in the regulation of blood clotting by inactivating thrombin and other proteinases in the bloodstream.
Deficiency in the SERPINC1 gene can lead to hereditary antithrombin deficiency, a condition characterized by an increased risk of blood clots. This deficiency can be detected through genetic testing, which examines changes in the SERPINC1 gene. Genetic testing for antithrombin deficiency can help in diagnosing the condition and guiding appropriate treatment strategies.
OMIM provides a collection of references, including scientific articles and other databases, to support further research on the SERPINC1 gene and its associated conditions. The catalog of genes and diseases from OMIM serves as a comprehensive resource for genetic information and can aid in understanding the genetic basis of various diseases.
For additional information related to the SERPINC1 gene, its related conditions, and genetic testing, OMIM should be consulted. The catalog provides a wealth of information and resources for researchers, healthcare professionals, and individuals interested in genetic diseases.
Gene and Variant Databases
In order to better understand the role of the SERPINC1 gene and its variants in various diseases and conditions, several gene and variant databases have been developed. These databases provide a wealth of information on the genetic changes associated with the gene, as well as additional references and articles related to the topic.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the SERPINC1 gene, including its genetic changes as well as associated diseases and conditions.
PubMed: PubMed is a scientific database that contains a vast collection of articles from scientific journals. It includes references, studies, and articles related to the role of the SERPINC1 gene and its variants in various diseases and conditions.
GeneCards: GeneCards is a searchable database that provides information on human genes, including the SERPINC1 gene. It includes details on the gene’s function, expression, and associated diseases.
HGMD: The Human Gene Mutation Database (HGMD) is a comprehensive resource that collects information on disease-causing mutations in human genes. It includes information on genetic changes in the SERPINC1 gene and their association with hereditary deficiency.
HEMDAT: The HEMDAT database is a part of the HemOnc.org registry and provides information on genetic changes associated with hereditary deficiency of antithrombin. It is a valuable resource for patients and healthcare providers seeking information on this condition.
ClinVar: ClinVar is a freely accessible database that collects and curates information about genetic variations and their relationship to human health. It includes information on genetic changes in the SERPINC1 gene and their association with various diseases and conditions.
These databases, among others, provide valuable resources for researchers, clinicians, and individuals seeking information on the SERPINC1 gene and its variants. They help in understanding the genetic basis of conditions associated with antithrombin deficiency and provide a platform for further research and testing.
References
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Antithrombin III deficiency. (2020). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/antithrombin-iii-deficiency#resources
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Antithrombin III, human. (2020). OMIM. Retrieved from https://omim.org/entry/107300
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Antithrombin testing. (n.d.). Mayo Clinic Laboratories. Retrieved from https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/890
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Dahlback B. Inherited thrombophilia: resistance to activated protein C as a pathogenic factor of venous thromboembolism. Blood. 1995;85(2):607-614.
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Ginsberg D. Hypercoagulable States. In: Hoffman R, Benz Jr EJ, Silberstein LE, et al., editors. Hematology: Basic Principles and Practice. 7th edition. Philadelphia, PA: Elsevier; 2018. p. 1517-1530.
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Ginsburg D. Thrombophilia. In: Goldman L, Schafer AI, editors. Goldman-Cecil Medicine. 26th edition. Philadelphia, PA: Elsevier; 2020. p. 944-949.
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Konkle BA, Bauer KA. Acquired Disorders of Coagulation: Bleeding and Thrombosis. In: Hoffman R, Benz Jr EJ, Silberstein LE, et al., editors. Hematology: Basic Principles and Practice. 7th edition. Philadelphia, PA: Elsevier; 2018. p. 1356-1365.
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Reitsma PH, Bernardi F, Doig RG, et al. Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost. 1995;73(5):876-889.
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Tait RC, Walker ID, Reitsma PH, et al. Prevalence of protein C deficiency in the healthy population. Thromb Haemost. 1995;73(1):87-93.
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What is antithrombin III (ATIII) and how does it work? (2018). Antithrombin Deficiency Resource Center. Retrieved from https://www.antithrombin.com/what-is-at-iii.php
