The EPOR gene, also known as the erythropoietin receptor gene, is a gene that plays a central role in the signaling pathway for erythropoietin, a hormone that regulates red blood cell production in the body. Mutations or changes in this gene can have significant effects on health and can be associated with various conditions.
Scientific research on the EPOR gene and its variants has provided valuable insights into the genetic basis of diseases such as familial erythrocytosis, a condition characterized by the overproduction of red blood cells. Studies have identified specific genetic changes in the EPOR gene that are responsible for this condition.
Health information related to the EPOR gene, including genetic testing and other resources, can be found in databases such as PubMed and OMIM. These resources provide free access to articles and additional information on the EPOR gene and its associated conditions. The EPOR gene is listed in genetic catalogs and registries, making it easier for researchers and healthcare professionals to access information about this gene.
Health Conditions Related to Genetic Changes
There are several health conditions related to genetic changes in the EPOR gene. The EPOR gene, which stands for erythropoietin receptor, is involved in the signaling process of erythropoietin, a hormone that regulates red blood cell production in the body.
Genetic changes in the EPOR gene can lead to various health conditions, including erythrocytosis, a condition characterized by an increased number of red blood cells in the body. This can result in symptoms such as fatigue, dizziness, and an increased risk of blood clots.
Familial erythrocytosis is one example of a health condition related to genetic changes in the EPOR gene. It is an inherited form of the condition and can have both primary and secondary origins. Primary familial erythrocytosis is caused by mutations in the EPOR gene, while secondary familial erythrocytosis can be caused by mutations in other genes involved in the erythropoietin signaling pathway.
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To learn more about health conditions related to genetic changes in the EPOR gene, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the EPOR gene, its variants, and associated health conditions. PubMed and PubMed Central are scientific databases that contain articles on familial erythrocytosis and other diseases related to the EPOR gene. The National Center for Biotechnology Information’s (NCBI) Gene and Genetic Testing Registry also provide additional information and references on genetic testing for these conditions.
| Resource | Description |
|---|---|
| OMIM | An online catalog of human genes and genetic disorders, including information on the EPOR gene and related conditions. |
| PubMed | A database of scientific articles, including research on familial erythrocytosis and other diseases related to the EPOR gene. |
| PubMed Central | An archive of freely available articles from the biomedical and life sciences journal literature, including articles on familial erythrocytosis and other diseases related to the EPOR gene. |
| Gene and Genetic Testing Registry | A centralized resource that provides information on genetic tests for EPOR gene-related conditions and other genetic disorders. |
Familial erythrocytosis
Familial erythrocytosis is a condition characterized by an excessive production of red blood cells in the body. It is caused by genetic variants in the EPOR gene, which encodes the erythropoietin receptor.
The EPOR gene is listed in the OMIM (Online Mendelian Inheritance in Man) catalog, which is a comprehensive database of human genes and genetic conditions. It provides information on the gene, related diseases, and genetic tests available for screening and diagnosis.
Variant information for the EPOR gene can be found in various scientific databases, such as PubMed, which contains a vast collection of research articles. These articles provide additional information on familial erythrocytosis and its genetic origins.
Genetic testing for familial erythrocytosis can be done through health services or commercial laboratories. These tests analyze specific variants in the EPOR gene to confirm a diagnosis and provide guidance for management and treatment.
Resources for further information on familial erythrocytosis and related conditions include scientific articles, medical journals, and genetic registries. These resources offer a centralized catalog of information on the condition, its causes, and recommended treatments.
Other Names for This Gene
The EPOR gene is also known by the following names:
- Erythropoietin receptor
- EPO receptor
- Erythrocytosis familial, with or without mild to moderate mental retardation
- EPOR gene
- EPOR
These alternative names reflect the different aspects and functions of the EPOR gene. The gene is responsible for encoding the erythropoietin receptor, a protein that plays a key role in the signaling pathway for erythropoietin. Erythropoietin is a hormone that regulates the production of red blood cells. Genetic changes in the EPOR gene can lead to various diseases and conditions, including erythrocytosis and familial conditions with or without mild to moderate mental retardation.
More information on the EPOR gene and related conditions can be found in scientific articles, databases, and other resources. The EPOR gene is listed in the online Mendelian Inheritance in Man (OMIM) catalog, which provides genetic information on various health conditions. PubMed, a free resource, offers a wide range of articles and references on EPOR and its associated diseases. Additional testing for EPOR-related conditions may be available through genetic testing laboratories or central registries.
Additional Information Resources
- References: A list of scientific articles relevant to the EPOR gene and related conditions can be found in PubMed, a database of biomedical literature. These articles provide information on the genetic changes, signaling pathways, and health conditions associated with the EPOR gene.
- Erythropoietin Receptor (EPOR) Gene: The EPOR gene encodes the erythropoietin receptor, a protein involved in red blood cell production. Genetic variants in this gene can lead to conditions such as erythrocytosis, familial erythrocytosis, and others. The EPOR gene is also known by other names, such as the erythropoietin receptor, EPO-R, and EPOR1.
- Testing and Diagnostic Resources: Additional testing and diagnostic resources for EPOR gene-related conditions can be found in central databases and registries. These resources provide information on genetic testing, diagnostic procedures, and available treatments for individuals with EPOR gene-related conditions.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic diseases and their associated genes. The EPOR gene and its related conditions are listed in the OMIM database, along with information on the clinical features, inheritance patterns, and genetic changes associated with these conditions.
- Other Resources: In addition to PubMed and OMIM, there are other resources available for accessing information on the EPOR gene. These include online health catalogs, scientific articles, and genetic databases that provide comprehensive information on the EPOR gene, its functions, and associated diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a free online resource that provides information about genetic tests. It serves as a central repository for genetic test names, origins, and the diseases or conditions they are associated with. The GTR is maintained by the National Library of Medicine and is a valuable tool for researchers, healthcare providers, and the general public.
The GTR lists a variety of tests related to the EPOR gene, which encodes the erythropoietin receptor. The receptor plays a critical role in the signaling of erythropoietin, a hormone that regulates the production of red blood cells in the body. Changes in the EPOR gene can lead to familial erythrocytosis, a condition characterized by an excess of red blood cells.
Tests listed in the GTR provide information on genetic changes or variants in the EPOR gene that are associated with familial erythrocytosis. These tests can help individuals and their healthcare providers identify the genetic cause of their condition and make informed decisions about their health.
In addition to the GTR, there are other databases and resources that provide additional information on genetic testing for diseases associated with the EPOR gene. These resources include PubMed, OMIM, and scientific articles that discuss the genetic basis of erythropoietin receptor-related conditions.
Genetic testing is an important tool in the diagnosis and management of genetic conditions. The tests listed in the GTR offer valuable information for individuals and healthcare providers seeking to understand and address familial erythrocytosis and other diseases related to the EPOR gene.
References:
- National Library of Medicine. Genetic Testing Registry (GTR). Available at: https://www.ncbi.nlm.nih.gov/gtr/.
- PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/.
- Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/.
Note: The content provided in this article is for informational purposes only and should not be considered as medical advice. The mentioned resources should be consulted for specific and accurate information on genetic testing and genetic conditions.
Scientific Articles on PubMed
PubMed is a central and free resource for scientific articles related to the EPOR gene and its signaling. It provides additional databases and resources for genetic information and testing.
The PubMed database contains a registry of familial variants, testing conditions, and diseases related to EPOR. It also lists genetic changes and origins of familial erythrocytosis, a condition caused by mutations in the EPOR gene.
Scientific articles on PubMed provide valuable information on the erythropoietin receptor gene and its role in various diseases and conditions. These articles discuss the genetic basis of erythrocytosis and the impact of EPOR mutations on erythropoietin signaling.
Other articles available on PubMed explore the genetic landscape of erythrocytosis and how EPOR mutations contribute to the development of this condition. These articles also provide references to related studies and research in the field.
PubMed offers a vast collection of articles and references on the EPOR gene and its implications in health and diseases. It is a valuable resource for scientists, researchers, and healthcare professionals interested in studying the genetic underpinnings of erythrocytosis and related conditions.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that provides information on the genetic basis of human diseases. It catalogues genes and diseases from various sources, including scientific articles, genetic testing registries, and familial databases.
OMIM contains a vast amount of information on genes and diseases related to the EPOR gene, which encodes the erythropoietin receptor. The EPOR gene is critical for red blood cell production and is involved in several genetic conditions, such as erythrocytosis.
Within the OMIM database, you can find a variety of resources. The information is organized by gene and disease, and each entry provides a detailed overview of the genetic changes associated with the condition, its clinical manifestations, and its genetic testing availability.
In addition to the in-depth information, OMIM also provides references to scientific articles, genetic testing laboratories, and other related resources. These references offer further insights into the research, diagnosis, and treatment options for specific genetic disorders.
To navigate the wealth of information in OMIM, you can search for genes or diseases using their official names or aliases. The database also allows users to search based on disease symptoms or a specific variant in a gene.
OMIM provides a central hub for accessing free, authoritative information on genes and diseases. It is a valuable tool for researchers, healthcare professionals, and individuals seeking to better understand the genetic origins of various health conditions.
| Resources | Features |
|---|---|
| Genes | – Catalog of genes linked to genetic disorders |
| Diseases | – Overview of various diseases and their genetic basis |
| Signaling | – Information on genetic signaling pathways |
| Catalog | – Comprehensive catalog of genetic conditions |
| Related Resources | – References to scientific articles and databases |
| Registry | – Genetic testing registries and laboratories |
| Familial Conditions | – Information on genetic conditions affecting families |
| Tests | – Availability of genetic tests for specific conditions |
| Receptor | – Focus on genes related to the erythropoietin receptor |
| Information | – Detailed information on genetic changes and their implications |
| References | – References to scientific articles and resources |
| Erythrocytosis | – Coverage of genetic conditions such as erythrocytosis |
| Other Articles | – Articles on various topics related to genetics and diseases |
| Names | – Official names and aliases of genes and diseases |
| Body | – EPOR gene and its impact on health |
| Epub | – Access to early online publications |
| EPOR | – Detailed information on the EPOR gene |
| Pubmed | – Integration with PubMed |
| Genes | – Coverage of various genes involved in genetic disorders |
| In | – In-depth information on genes and diseases |
| Variant | – Ability to search for specific gene variants |
| Scientific | – Reliable and scientifically validated information |
| Genetic Testing | – Information on genetic testing availability |
| Gene | – Detailed information on specific genes |
| Health | – Insights into the genetic basis of various health conditions |
| Origins | – Genetic origins of diseases |
| Additional | – Additional resources for further exploration |
| OMIM | – Comprehensive collection of genes and diseases |
| Diseases | – Coverage of various genetic diseases |
| Erythropoietin | – Focus on genes and diseases related to erythropoietin |
| This | – Information on genes and diseases |
| Changes | – Genetic changes associated with diseases |
| Central | – Central hub for genetic information |
| Free | – Free access to valuable knowledge |
Gene and Variant Databases
Gene and variant databases provide valuable resources for researchers and scientists studying the EPOR gene and its variants. These databases collect and catalog information on genetic variations and their associated health conditions, allowing researchers to access and analyze this information.
One of the central databases for gene and variant information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genes and genetic conditions, including information on the EPOR gene and its variants. Researchers can find information on the genetic changes associated with EPO receptor-related erythrocytosis and other familial erythrocytosis conditions.
In addition to OMIM, there are several other databases that provide information on the EPOR gene and its variants. These databases include the EPOR Variant Registry, which focuses specifically on variants of the EPOR gene. The EPOR Variant Registry provides information on genetic changes, variant names, and associated health conditions. Researchers can use this database to find references and additional resources related to the EPOR gene and its variants.
Another important resource is PubMed, a free scientific publication database. Researchers can search for scientific articles related to the EPOR gene and its variants using keywords such as “EPOR gene” or “EPOR variant.” PubMed provides a vast collection of scientific articles, providing valuable information for researchers studying the EPOR gene and its variants.
Genetic testing companies also provide databases and resources for researchers and individuals interested in the EPOR gene and its variants. These companies offer genetic testing services that can identify variants in the EPOR gene and provide information on their potential health implications. Some companies also offer counseling services to help individuals understand the results of their genetic tests and make informed decisions about their health.
In conclusion, gene and variant databases are valuable resources for researchers studying the EPOR gene and its variants. These databases collect and catalog information on genetic variations and their associated health conditions, providing researchers with a wealth of information to further their understanding of the EPOR gene and its role in health and disease.
References
- OMIM. “EPOR Gene – Familial Erythrocytosis”. Retrieved from https://www.omim.org/entry/133171 on [date]
- PubMed. “EPOR Gene”. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=EPOR+gene on [date]
- Catalog of Genes and Diseases. “EPOR gene”. Retrieved from https://www.ncbi.nlm.nih.gov/cgibin/Entrez/cgiregistry.cgi?db=gene&term=EPOR on [date]
- Additional articles and resources about EPOR gene and related conditions can be found at:
- [List of scientific articles]
- [List of genetic databases]
- [List of testing resources]
- [List of genetic changes and variants]
- [List of other genes involved in erythrocytosis and erythropoietin signaling]