The PROS1 gene encodes for the protein S, which is an effective cofactor for the function of other proteins involved in blood clotting. Protein S is mainly synthesized in the liver and plays a significant role in inhibiting blood clot formation. Mutations or changes in the PROS1 gene can lead to protein S deficiency, which increases the risk of developing blood clots.
This gene is also known by other names such as the PROS gene and PROCR gene, and it is listed on various genetic databases and resources. PubMed is a scientific database that provides references and articles on genetic information, including the PROS1 gene. Testing for changes or mutations in this gene can be done in clinical genetic testing, especially for individuals with a family history of clotting disorders or related conditions.
Reduced levels of protein S or PROS1 gene mutations are associated with conditions like deep vein thrombosis and other clotting diseases. The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information on these conditions and their genetic basis. Understanding the function and variants of the PROS1 gene is important for genetic counselling and management of individuals with these clotting disorders.
Health Conditions Related to Genetic Changes
Genetic changes in the PROS1 gene have been bound to various health conditions. Scientific research and medical resources provide valuable information on these genetic changes and their associated conditions.
- Thrombophilia: Genetic variants in the PROS1 gene have been linked to an increased risk of blood clots. Testing for these genetic changes can be effective in identifying individuals who may be at a higher risk for clotting disorders.
- Protein S Deficiency: Mutations in the PROS1 gene can lead to reduced levels or impaired function of the Protein S protein. Protein S deficiency is a genetic condition that can increase the risk of developing blood clots.
- Cofactor Cofactor Deficiency: Cofactor Cofactor is an important partner protein for Protein S, and its deficiency can also contribute to an increased risk of thrombosis.
Additional information on genetic changes and related conditions can be found in scientific articles, databases, and catalogs such as PubMed, OMIM, and the PROS1 variant registry. These resources provide detailed references and data on the genes, proteins, and health conditions associated with genetic changes in the PROS1 gene.
Furthermore, genetic testing can be performed to identify specific variants in the PROS1 gene, providing valuable information for diagnostic purposes and risk assessment. It is important to consult with healthcare professionals and genetic counselors to interpret the results of these tests accurately.
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Protein S deficiency
Protein S deficiency is a genetic condition that affects the function of the PROS1 gene, which codes for protein S. Protein S is a cofactor for the protein C anticoagulant pathway, playing a crucial role in preventing blood clots.
Individuals with protein S deficiency have reduced levels of protein S in their blood, resulting in an increased risk of developing blood clots. This condition can lead to a variety of diseases and conditions, including deep vein thrombosis (DVT), pulmonary embolism, and recurrent miscarriages.
Testing for protein S deficiency involves measuring the levels of protein S in the blood. There are different tests available to diagnose this condition, including functional and genetic tests. Functional tests assess the activity of protein S, while genetic tests look for specific mutations in the PROS1 gene.
Individuals with protein S deficiency may exhibit symptoms such as swelling, pain, and redness in the affected area. This can be accompanied by warmth and tenderness. If blood clots form and travel to the lungs, symptoms can include shortness of breath, chest pain, and coughing up blood.
Patients with protein S deficiency may have a family history of blood clotting disorders or may develop blood clots at a young age without other risk factors. It is important to consult a healthcare professional if there is a suspicion of protein S deficiency.
There are resources available for additional information and support related to protein S deficiency. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases list scientific articles and references related to this condition. Genetic testing and other diagnostic resources can be found through genetic registries and databases.
| Resources | Description |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | A catalog of human genes and genetic phenotypes, including information on protein S deficiency |
| PubMed | A database of scientific articles in the field of medicine, including research on protein S deficiency |
| Genetic Registries and Databases | Additional resources for genetic testing and information on protein S deficiency |
Effective treatment for protein S deficiency may involve the use of anticoagulant medications to prevent blood clots. It is important for individuals with this condition to work closely with a healthcare professional to develop a personalized treatment plan based on their specific needs and medical history.
In summary, protein S deficiency is a genetic condition that affects the function of the PROS1 gene, resulting in reduced levels of protein S in the blood. This deficiency can contribute to the development of blood clots and increase the risk for various diseases and conditions. Testing, such as functional and genetic tests, can be conducted to diagnose protein S deficiency. There are additional resources available for information and support related to this condition.
Other Names for This Gene
The PROS1 gene is also known by several other names, including:
- PROCR
- APC-like
- APC-like proteinase
- Anticoagulant protein S
- Cofactor S
- Protein S
These alternative names are used in various resources, databases, and scientific articles related to the gene. The protein encoded by the PROS1 gene is involved in the anticoagulant function and is listed as a cofactor protein.
The PROS1 gene is associated with conditions and diseases such as protein S deficiency, genetic changes related to clotting disorders, and other genetic variants. Information about this gene can be found in resources such as OMIM, PubMed, genetic testing databases, and the Genetic Testing Registry.
Additional information, articles, and references about the function and deficiency of the PROS1 gene and its related proteins can be found in scientific literature and health catalogs.
Additional Information Resources
For additional information on the PROS1 gene, you can refer to the following resources:
- PubMed: This is a comprehensive database of scientific articles. You can search for articles on the PROS1 gene, variant testing, and related diseases.
- Registry: There are registries available that list information about genetic variants and diseases associated with the PROS1 gene. These registries can provide valuable information on testing and treatment options.
- References: Many articles and research papers reference the PROS1 gene in relation to various diseases. Checking these references can provide more insights into the role of the gene in specific conditions.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find information about the PROS1 gene, its mutations, and associated diseases in this database.
- Genetic Databases: There are several genetic databases available that contain information on genes, variants, and associated diseases. These databases can be a useful resource for understanding the function of the PROS1 gene and its role in different health conditions.
- Protein Function: Understanding the function of the PROS1 gene and the proteins it produces can provide insights into its role in various diseases. Protein bound assays and related tests can help determine the protein’s effectiveness and any changes in its function.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests, including those for the PROS1 gene. The PROS1 gene provides instructions for making a protein called protein S, which plays a critical role in blood clotting function.
Protein S has a cofactor effect on a protein called activated protein C (APC), which helps to regulate blood clotting. Mutations or changes in the PROS1 gene can lead to a protein S deficiency, reducing its ability to bind to APC and regulate blood clotting. This can result in an increased risk of blood clots and related health conditions.
Tests listed in the GTR for the PROS1 gene include genetic tests that identify variants in the gene associated with protein S deficiency. The GTR provides additional information on the specific tests, including names, genetic conditions tested for, and resources such as articles, references, and related scientific databases like OMIM and PubMed.
| Test Name | Genetic Condition | Resources |
|---|---|---|
| PROS1 gene variant testing | Protein S deficiency | OMIM, PubMed |
| PROS1 protein function testing | Protein S deficiency | OMIM, PubMed |
| PROS1 cofactor assay | Protein S deficiency | OMIM, PubMed |
In addition to the listed tests, the GTR provides access to a variety of resources for more information on the PROS1 gene, protein S deficiency, and related diseases. These resources can help healthcare professionals and individuals understand the genetic basis of these conditions and make informed decisions about testing and management.
- Articles and references: The GTR includes links to articles and references related to the PROS1 gene, protein S deficiency, and associated health conditions.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions and genes, including the PROS1 gene.
- PubMed: PubMed is a database of scientific publications that can provide additional scientific research and studies on the PROS1 gene and related topics.
Scientific Articles on PubMed
Scientific articles on the PROS1 gene can be found in various sources, including registries and genetic databases. These resources provide information on the genetic makeup of individuals and the proteins encoded by their genes. By studying genetic mutations and changes in the DNA sequence, researchers can gain insights into the function of these genes and how they relate to different diseases and conditions.
In PubMed, a popular scientific database, researchers can find a catalog of articles related to the PROS1 gene. By searching for keywords such as “PROS1 deficiency” or “PROS1 protein variant,” scientists can access a wealth of scientific articles that delve into the various aspects of this gene and its role in different diseases.
Some articles focus on the reduced protein levels or defects in the PROS1 gene that can lead to conditions such as protein S deficiency. This deficiency can affect blood clotting and increase the risk of developing blood clots. Other articles explore genetic changes or mutations in the PROS1 gene that have been associated with different diseases and conditions.
Scientific articles related to the PROS1 gene often provide additional resources and references that researchers can explore for more information. These references may include other scientific papers, genetic databases, or health resources such as OMIM (Online Mendelian Inheritance in Man).
Testing for PROS1 gene mutations or protein S deficiency can be done through various genetic tests. These tests can help determine if an individual has a genetic variant or deficiency that may affect their health. They can also be effective in identifying individuals who may benefit from specific treatments or interventions.
Overall, scientific articles on PubMed provide valuable information on the PROS1 gene and its role in different diseases and conditions. By studying the genetic and protein changes associated with this gene, researchers can gain insights into its function and potential therapeutic applications.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that contains information about various genes and diseases. OMIM is a widely used resource for researchers, healthcare professionals, and individuals seeking information about genetic disorders.
OMIM provides information about genetic diseases, including their symptoms, inheritance patterns, and molecular basis. It contains detailed descriptions of genes, including their names, functions, and variant alleles. The database also includes links to scientific articles and other resources for further reading.
OMIM organizes genes and diseases into categories and subcategories, making it easy to navigate and search for specific conditions. For example, the database has a section on blood clotting disorders, where genes such as PROS1 and other related proteins are listed.
The PROS1 gene, also known as Protein S, is an important component of the blood clotting system. It acts as a cofactor for protein C, which helps regulate blood clot formation. Reduced or deficient levels of protein S can lead to an increased risk of blood clots.
The OMIM database provides information on the genetic changes associated with PROS1 deficiency and related health conditions. It includes details about the protein’s structure and function, as well as references to scientific articles that have studied the gene.
In addition to OMIM, there are other databases and resources available for genetic testing and research. These include PubMed, which provides access to a vast collection of scientific articles, and the Genetic Testing Registry, which lists genetic tests and laboratories offering them.
For individuals interested in genetic testing, OMIM can be an effective tool for understanding the genes and proteins involved in various diseases. It provides valuable information that can help healthcare professionals make accurate diagnoses and develop effective treatment strategies.
In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive resource for information about genes, diseases, and the proteins they encode. It provides detailed descriptions, references to scientific articles, and other resources to support research and clinical practice.
Gene and Variant Databases
Gene and variant databases provide valuable information about the function, changes, and genetic conditions related to specific genes and variants. These databases serve as a comprehensive catalog of genetic variants and their associated information, making them valuable resources for researchers, clinicians, and individuals interested in understanding genetic diseases and conditions.
By compiling references from scientific articles, health registries, and other sources, these databases list the genetic variants and their effects on protein function, resulting in genetic conditions. This information can be critical for diagnosis, treatment, and genetic testing.
One such database, known as the Online Mendelian Inheritance in Man (OMIM), provides detailed information about genetic diseases and their associated genes and variants. It includes information about the inheritance patterns, clinical characteristics, and functions of genes and proteins. OMIM is a valuable resource for researchers and clinicians in understanding the genetic basis of various diseases.
In addition to OMIM, there are several other databases that focus on specific genes, variants, or protein functions. These databases include the Human Gene Mutation Database (HGMD), ClinVar, and UniProt. HGMD specifically focuses on genetic variants associated with human genes and provides essential information about these variants, including their clinical significance and functional effects.
ClinVar is a database that collects information about the relationship between genetic variants and diseases. It includes data from multiple sources, such as research studies, clinical testing laboratories, and literature references. ClinVar provides clinicians and researchers with a comprehensive view of the clinical significance of genetic variants.
UniProt is a database that provides detailed information about proteins, including their names, functions, and interactions with other proteins. It includes information about genetic variants that can affect protein structure or function and cause genetic conditions. UniProt is an invaluable resource for understanding the role of proteins in various biological processes.
Overall, gene and variant databases play a crucial role in providing comprehensive and up-to-date information about genetic variants, their effects on protein function, and their associations with diseases. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases and the effectiveness of genetic testing.
References
- PROS1 gene. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/PROS1.
- PROS1 protein, human. UniProt. Available at: https://www.uniprot.org/uniprot/P07225.
- PROS1 deficiency. The Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/6926/protein-s-deficiency.
- PROS1 gene. OMIM. Available at: https://omim.org/entry/176880.
- PROS1 gene. NCBI Gene. Available at: https://www.ncbi.nlm.nih.gov/gene/5627.
- PROS1. Protein S – Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/protein-s.
- PROS1. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=PROS1.