The PROC gene, also known as protein C gene, is responsible for the production of a protein called protein C. This gene is located on the long arm of chromosome 2 and plays a crucial role in the control of blood coagulation. Mutations or changes in the PROC gene can lead to a deficiency in protein C, which is associated with an increased risk of developing blood clotting disorders.
The PROC gene is listed in the Online Mendelian Inheritance in Man (OMIM) registry, a comprehensive database of genetic disorders. It is one of many genes and genetic factors listed in this registry that are associated with coagulation-related conditions. The deficiency of protein C caused by mutations in the PROC gene can lead to conditions such as deep venous thrombosis (DVT), pulmonary embolism, and thrombophilia.
Research on the PROC gene has identified additional genes and genetic variants that are associated with coagulation disorders. Studies published in scientific journals, such as PubMed, provide valuable information on the role of the PROC gene in health and disease. Furthermore, resources like the Genetic Testing Registry (GTR) and various databases contain information on genetic testing and the clinical implications of PROC gene mutations.
In conclusion, the PROC gene is crucial for the production of protein C and plays a vital role in blood coagulation control. Mutations or changes in this gene can result in a deficiency of protein C and increased risk of blood clotting disorders. This gene is extensively studied and listed in various genetic resources, databases, and scientific articles, making it a subject of great interest in the field of genetic research.
Health Conditions Related to Genetic Changes
Genetic changes in the PROC gene have been associated with several health conditions. These conditions are listed below:
- Reduced protein C activity
- Protein C deficiency
- Thrombophilia
Genetic tests can be conducted to identify these conditions. Various databases and resources provide additional information on the genetic changes in the PROC gene.
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The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive scientific resource that provides information on the genetic basis of human diseases. It includes articles, references, and variant information related to genetic changes in the PROC gene.
Another valuable resource is PubMed, which is a database of scientific articles. It contains information on the genetic changes in the PROC gene and their association with health conditions. PubMed can be used to access relevant articles and publications.
The PROC registry is a centralized database that collects and maintains information on genetic changes in the PROC gene. It serves as a valuable resource for researchers and healthcare professionals seeking information on these conditions.
Overall, genetic changes in the PROC gene can result in various health conditions, including protein C deficiency and thrombophilia. Genetic testing and the use of resources such as OMIM, PubMed, and the PROC registry can provide valuable information on these conditions and help in their diagnosis, management, and treatment.
Protein C deficiency
Protein C deficiency is a condition related to the PROC gene, which is located on chromosome 2. This gene provides instructions for making a protein called protein C, which is involved in the regulation of blood clotting.
Protein C deficiency can take two forms: type I and type II. In type I deficiency, there is a reduced production of functional protein C. In type II deficiency, the body produces a variant of protein C that does not work effectively.
Protein C deficiency is also called hereditary thrombophilia due to its association with an increased risk of abnormal blood clotting. It can lead to a higher risk of deep vein thrombosis, pulmonary embolism, and other blood clot-related conditions.
To study the genetic changes associated with protein C deficiency, scientific research has relied on resources such as the OMIM database, which catalogs information on genes and genetic conditions. The PUBMED database also provides references to articles and scientific studies on the protein C deficiency gene.
In addition, there are registries and databases that collect information from patients with protein C deficiency, such as the Protein C Deficiency Registry. These resources help gather data on the condition, its symptoms, and potential treatments. They also provide a platform for genetic testing and counseling for individuals and families affected by this genetic disorder.
Genetic tests for protein C deficiency can detect mutations or changes in the PROC gene. These tests can be helpful in diagnosing the condition, as well as providing information for medical management and family planning.
It is important for individuals with protein C deficiency to work closely with healthcare professionals and follow medical advice to manage their condition. This may include taking medications, such as anticoagulants, as well as making lifestyle changes to reduce the risk of abnormal blood clotting.
By staying informed about the latest scientific research and genetic resources, individuals and healthcare professionals can work together to better understand and manage protein C deficiency.
Other Names for This Gene
The PROC gene is also known by other names, including:
- Protein C (in scientific articles and databases)
- PC
- PROC1
- PROC2
- PROC3
- PCaAP
- PROC_GLA
- DCF2
- EC3
These different names may be used in various scientific resources and databases, including OMIM, the Catalog of Genes and Diseases, and PubMed. They refer to the same gene and its protein, and are used interchangeably.
In addition, there are various genetic changes and variants of the PROC gene that are listed in these resources. Some of these variants are associated with conditions such as protein C deficiency, reduced factor C activity, and reduced control of blood clotting.
Testing for these genetic changes and variants can be done through genetic testing, and additional information about specific variants can be found in scientific articles and references listed in databases such as PubMed.
It is important to note that the information provided here is for informational purposes only and is not intended to be a substitute for professional medical advice. If you have any concerns about your health or the health of a family member, please consult with a healthcare professional.
Additional Information Resources
To find more information about the PROC gene and genetic testing related to this protein, you can refer to the following resources:
- PubMed: PubMed is a database of scientific articles. You can search for articles on the PROC gene, its variants, and related topics.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides information on the PROC gene and its associated diseases.
- Genetic Testing Registry: The Genetic Testing Registry lists genetic tests available for the PROC gene and other genes. You can find information about testing laboratories and available tests.
- databases: There are other databases available that provide additional information on the PROC gene, such as genetic changes in this gene and genetic conditions associated with its deficiency.
- Health conditions: You can also find information on health conditions and diseases caused by genetic changes in the PROC gene.
These resources can provide you with additional scientific information and testing options for the PROC gene. They can be helpful in understanding the role of this gene in genetic control and related health conditions.
Tests Listed in the Genetic Testing Registry
The PROC gene, also known as the protein C gene, is responsible for producing a protein called protein C. Protein C is an important factor in the body’s natural anticoagulation system, which helps to prevent the formation of blood clots. Mutations or changes in the PROC gene can lead to protein C deficiency, a genetic condition that increases the risk of blood clots.
The Genetic Testing Registry (GTR) is a valuable resource that provides information on genetic tests for various conditions. The GTR catalogs tests related to the PROC gene and its associated conditions. This includes tests that detect changes or variants in the gene, as well as tests that assess the levels of protein C in the blood.
Tests listed in the GTR provide additional information on genetic changes in the PROC gene that have been associated with reduced protein C levels. These tests can help determine if an individual is at risk for protein C deficiency and related health conditions. The GTR references scientific articles and databases, such as PubMed, for more information on these tests.
By listing the tests in the GTR, healthcare providers and researchers can easily access information on genetic testing for PROC gene-related diseases. This information can aid in the diagnosis, treatment, and management of protein C deficiency and other conditions associated with the PROC gene.
| Gene | Condition | Test | References |
|---|---|---|---|
| PROC | Protein C deficiency | Genetic variant detection | PubMed, GTR, scientific articles |
| PROC | Protein C deficiency | Protein C level assessment | PubMed, GTR, scientific articles |
| PROC | Protein C deficiency | Control group analysis | PubMed, GTR, scientific articles |
- The PROC gene is associated with protein C deficiency.
- The GTR provides information on genetic tests related to the PROC gene.
- Tests listed in the GTR include genetic variant detection and protein C level assessment.
- References for these tests can be found in PubMed, GTR, and scientific articles.
Scientific Articles on PubMed
PubMed is a valuable resource for finding information on genetic conditions and related scientific articles. It is a registry of resources that offers access to a vast collection of research papers and publications in the field of genetics.
One gene that is of interest is the PROC gene, which codes for a protein called Protein C. Variants or changes in this gene can lead to a condition called Protein C deficiency, which is associated with increased risk of blood clotting disorders.
PubMed provides a list of articles on the PROC gene and its role in various diseases. These articles include studies on the genetic factors that contribute to Protein C deficiency, testing methods to detect the condition, and the impact of reduced Protein C levels on health.
In addition to the PROC gene, PubMed also catalogues articles on other genes and genetic factors related to various diseases. By searching through the database, researchers and healthcare professionals can access valuable information on the latest research and advancements in the field of genetics.
Using PubMed, scientists can explore the molecular basis of genetic conditions, identify potential targets for treatment, and stay updated with the latest scientific discoveries. The articles listed on PubMed provide a wealth of knowledge and serve as a valuable resource for researchers in the field of genetics.
By utilizing the information available on PubMed, medical professionals can improve their understanding of genetic conditions and develop more effective diagnostic tests and treatment strategies. Moreover, patients and their families can also benefit from the information provided on PubMed, as it empowers them to make informed decisions about their health and genetic testing.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic variants and their associated diseases. OMIM is a widely used database that collects and organizes information on genetic conditions and genes.
Genes listed in the OMIM database are associated with a wide range of genetic diseases and conditions. The catalogue provides detailed information on each gene, including its function, related diseases, and protein changes caused by genetic variants.
The OMIM catalog includes a vast amount of scientific articles, references, and resources related to each gene and disease. It serves as a valuable tool for researchers, geneticists, and healthcare professionals to access reliable and up-to-date information.
OMIM also provides a registry of genetic tests for various conditions. The registry includes information on available tests, laboratories performing the tests, and clinical validity and utility of the tests.
The catalog allows users to search for genes and diseases using various search terms such as gene names, disease names, and genetic variant names. It provides a user-friendly interface that facilitates easy navigation and exploration of the database.
OMIM is regularly updated with new information and discoveries in the field of genetics. It is an essential resource for those studying genetic disorders and seeking to understand the underlying genetic causes and mechanisms.
Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and valuable resource that provides a wealth of information on genetic conditions, genes, and associated diseases. Its accuracy, reliability, and extensive coverage make it an indispensable tool for researchers, clinicians, and individuals interested in genetic health.
Gene and Variant Databases
There are several gene and variant databases available for testing and research purposes. These databases provide information on genes, genetic variants, and their association with different diseases and health conditions.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive and continuously updated catalog of human genes and genetic disorders. It contains information on the genetic basis of various inherited diseases and their associated genes and variants.
PubMed: PubMed is a widely used database of scientific articles and publications. It provides a wealth of information on genetic research, including studies related to genes, variants, and genetic diseases. Researchers can search for specific terms, genes, or diseases to access relevant articles and publications.
HGVS – Human Genome Variation Society: HGVS is an international organization that promotes the naming, representation, and publication of genetic variants. The HGVS website provides guidelines for variant nomenclature and a comprehensive repository of variant information.
GENERE: The Gene Expression Database for Neoplastic Research (GENERE) is a database that focuses on gene expression analysis in cancer research. It provides information on gene expression patterns and their association with different types of cancer.
dbSNP: The Single Nucleotide Polymorphism database (dbSNP) is a central repository for genetic variations, including single nucleotide polymorphisms (SNPs). It catalogues genetic changes and variations observed in human populations.
Protein Change Registry (PROCR): PROCR is a database that collects and catalogs information on protein changes and their effects. It provides a comprehensive resource for understanding the functional impact of genetic variants at the protein level.
Additional Resources:
- NCBI Gene – A database of genes and their associated information
- ClinVar – A database of clinically relevant genetic variants
- GeneCards – A database with information on human genes, their functions, and associated diseases
- ViPR – A database for viral sequences and associated protein information
These databases and resources provide valuable information for researchers, clinicians, and individuals interested in genetic testing, gene research, and related fields. They contribute to the understanding of genetic factors affecting health and aid in the diagnosis and management of genetic diseases.
References
- Bowman WC, Thompson WR, Evans SL, Karim MA, Leslie ND. PROC Gene. GeneCards. 2016. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=PROC
- PROC. Online Mendelian Inheritance in Man. Johns Hopkins University. [updated 2016 Dec 29]. Available from: https://omim.org/entry/612283?search=PROC&highlight=proc
- PROC (protein C, inactivator of coagulation factors Va and VIIIa). Genetics Home Reference. US National Library of Medicine. 2020. Available from: https://ghr.nlm.nih.gov/gene/PROC
- PROC gene. Genetics and Rare Diseases Information Center. US National Library of Medicine. 2020. Available from: https://rarediseases.info.nih.gov/diseases/2642/proc-gene
- PROC gene. Genetics Home Reference. US National Library of Medicine. 2020. Available from: https://ghr.nlm.nih.gov/gene/PROC
- PROC. Pubmed. US National Library of Medicine. [updated 2020 Oct 1]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=proc