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The EGLN1 gene encodes the prolyl hydroxylase enzymes, which are a family of enzymes that play a crucial role in the regulation of oxygen levels in the body. Mutations in this gene have been linked to a variety of genetic diseases, including high-altitude diseases, such as chronic mountain sickness and high-altitude pulmonary edema.

One specific variant of the EGLN1 gene has been associated with hereditary erythrocytosis, a condition characterized by an excess of red blood cells. This variant, known as EGLN1-P317R, leads to increased erythrocytosis in response to hypoxia, or low oxygen levels in the body.

According to the OMIM database, there have been several studies exploring the relationship between EGLN1 gene mutations and various diseases. One study published in the Haematologica journal identified two additional EGLN1 variants in individuals with familial erythrocytosis. Another study published in the Journal of Clinical Investigation found a link between EGLN1 mutations and apparent secondary erythrocytosis in patients with paraganglioma-related conditions.

In addition to these studies, the gene EGLN1 has been listed in various scientific publications and resources, such as PubMed and the Genetic Testing Registry. These references provide further information on the role of EGLN1 in specific conditions and the genetic changes associated with the gene.

The EGLN1 gene, also known as prolyl hydroxylase domain-containing protein 2 (PHD2), plays a crucial role in the body’s response to hypoxia, or low oxygen levels. Mutations or changes in this gene can lead to various health conditions.

Several scientific studies, listed on PubMed database, have identified genetic changes in the EGLN1 gene and their association with specific diseases. These studies have provided valuable information for the understanding and diagnosis of these conditions.

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One of the conditions related to EGLN1 gene changes is familial erythrocytosis, a condition characterized by the excess production of red blood cells. This can lead to an increased risk of blood clots and other complications. Genetic testing for EGLN1 gene mutations may be needed to diagnose this condition accurately.

Another health condition linked to EGLN1 gene changes is paraganglioma, a type of tumor that occurs in the head and neck region. Research published in the scientific journal Haematologica has highlighted the role of EGLN1 gene mutations in the development of paragangliomas.

Information on the EGLN1 gene and its associated health conditions can be found in various resources, including scientific articles on PubMed and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide additional references and data on other genes and enzymes related to hypoxia and erythrocytosis.

A scientific registry called the Hypoxia Network has been established to facilitate collaboration and information sharing among researchers studying hypoxia-related genes and diseases. This registry serves as a valuable resource for scientists and clinicians interested in studying the EGLN1 gene and its role in health and disease.

In conclusion, changes in the EGLN1 gene can lead to various health conditions, including familial erythrocytosis and paraganglioma. Genetic testing and access to scientific databases and resources are crucial for accurate diagnosis and understanding of these conditions.

Familial erythrocytosis

Familial erythrocytosis, also known as genetic erythrocytosis, is a condition characterized by an excess of red blood cells in the body. It is caused by changes in genes that are involved in the production or regulation of red blood cells.

One of the genes associated with familial erythrocytosis is EGLN1. Mutations in the EGLN1 gene can lead to increased production of red blood cells, resulting in erythrocytosis. The EGLN1 gene encodes an enzyme called prolyl hydroxylase 2 (PHD2), which plays a role in the regulation of red blood cell production in response to hypoxia (low oxygen levels).

See also  SLC3A1 gene

There are several other genes that have been implicated in familial erythrocytosis, including EPAS1 and HIF2A. These genes also play a role in the response to hypoxia and can lead to increased red blood cell production when mutated.

The symptoms of familial erythrocytosis can vary depending on the severity of the condition. Some individuals may have no symptoms at all, while others may experience fatigue, weakness, dizziness, and shortness of breath. In severe cases, complications such as blood clots, stroke, and heart problems can occur.

Diagnosis of familial erythrocytosis typically involves a blood test to measure the number of red blood cells and other parameters related to red blood cell production. Genetic testing may also be done to identify specific mutations in genes such as EGLN1, EPAS1, or HIF2A.

Treatment for familial erythrocytosis aims to reduce the production of red blood cells and manage symptoms. This may involve regular blood removal (phlebotomy) to reduce the number of red blood cells, medication to suppress the production of red blood cells, or treatment of underlying conditions that may be causing the erythrocytosis.

For additional information on familial erythrocytosis, the Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive listing of related genes, conditions, and scientific articles. PubMed is also a valuable resource for accessing scientific articles and research on familial erythrocytosis and related genetic conditions.

References:

  1. Pouyssegur J, et al. Mechanisms of regulation of gene expression by hypoxia. TIG 2006 Nov; 22(11): 555-556.
  2. Richard DE, et al. Hypoxia-inducible factor-1: regulation, hypoxic gene expression, and role in tumor progression. Antioxid Redox Signal 2000; 2(3): 557-573.

Other Names for This Gene

The EGLN1 gene is also known by several other names. These alternative names can be found in various articles, references, and databases related to genes and health.

  • Prolyl hydroxylase domain-containing protein 2 (PHD2)
  • Hypoxia-inducible factor-prolyl hydroxylase 2 (HIF-PH2)
  • Eglin c
  • Prolyl hydroxylase domain-containing protein 2, oxygen-dependent
  • HPH-2
  • EGL nine homolog 1 (C. elegans)
  • SM20
  • ECYT3

These alternative names provide additional information and resources for genes related to EGLN1. They can be particularly helpful in scientific articles and medical literature discussing genetic conditions, diseases, and testing related to this gene.

Additional information about EGLN1 and its variant forms can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the scientific literature listed in PubMed. These resources provide comprehensive cataloging of genetic and enzyme-related information, and can be useful for genetic testing, family history research, and understanding the underlying mechanisms of diseases.

EGLN1 is known to play a role in the regulation of erythrocytosis, a condition characterized by an excess of red blood cells in the body. It is also associated with high-altitude adaptation, familial paraganglioma, and other conditions related to hypoxia and oxygen sensing.

Richard Pouyssegur and colleagues published an article in Haematologica that highlighted the role of EGLN1 as a key regulatory protein in erythrocytosis. This research further implicated EGLN1 in the control of oxygen-sensing pathways and the development of related diseases.

In conclusion, EGLN1 has various names and is involved in important biological processes. Access to genetic databases, scientific articles, and other resources is essential for obtaining a comprehensive understanding of this gene and its role in health and disease.

Additional Information Resources

Here is a list of additional resources for more information on the EGLN1 gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic variants and genes associated with various diseases. You can find more details about the EGLN1 gene and related conditions on their website.
  • PubMed: PubMed is a popular scientific database that provides access to a vast collection of articles on various topics, including genetics and genetic testing. You can search for specific articles on EGLN1 gene variants, testing methods, and related topics.
  • Gene Testing: If you are interested in genetic testing for EGLN1 gene variants or related conditions, you can consult genetic testing companies or clinical laboratories that offer such services. They can provide you with details on available tests and how to proceed.
  • Scientific Articles: There are numerous scientific articles published on the EGLN1 gene, its role in erythrocytosis and other conditions. Some key articles include studies on high-altitude adaptation, the function of the EGLN1 enzyme, and its relation to hypoxia.
  • Genetic Registries: There may be genetic registries or databases that focus on specific conditions associated with EGLN1 gene variants. These resources can provide a wealth of information on clinical features, treatment options, and ongoing research.
  • References and Related Genes: It’s important to explore relevant references and related genes that may be linked to EGLN1. Many genes in the same protein family or involved in similar biochemical pathways can provide additional insights into how EGLN1 variants may affect the body.
  • Professional Organizations: Health organizations and professional associations specializing in hematology, genetics, or related fields may have resources, guidelines, or experts who can provide more information on EGLN1 gene variants and associated conditions.
See also  Liebenberg syndrome

Remember to consult with healthcare professionals or genetic specialists for accurate and personalized information on specific health concerns and genetic conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying changes in genes that may be associated with various health conditions. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genes and genetic tests available for testing of specific genes. The EGLN1 gene is one of the genes listed in the GTR.

The EGLN1 gene encodes a protein called prolyl hydroxylase domain-containing protein 2 (PHD2). This protein is involved in the regulation of the cellular response to hypoxia (low oxygen levels) in the body. Mutations or changes in this gene have been associated with conditions such as familial erythrocytosis (excess production of red blood cells) and paraganglioma (a type of tumor).

For genetic testing related to the EGLN1 gene, multiple resources can be found in the GTR. These include:

  • Articles in PubMed Central (PMC): Scientific articles on genetic testing, EGLN1 gene, and related topics can be found in the PubMed Central database. These articles provide additional information on the gene, its variants, and associated diseases.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) provides comprehensive information on genes, genetic disorders, and inherited conditions. The EGLN1 gene and its related conditions can be explored on this database.
  • ClinVar: ClinVar is a freely accessible database of genetic variants and their clinical significance. It provides information on the relationship between genetic variants and diseases.
  • HAEMATOLOGICA: HAEMATOLOGICA is a scientific journal that focuses on hematology and related topics. It contains research articles on erythrocytosis and other blood disorders, including those related to EGLN1 gene mutations.

These resources offer insights into the genetic testing, gene variants, and associated diseases related to the EGLN1 gene. However, it is important to consult with healthcare professionals and genetic counselors for a comprehensive understanding of the testing process and its implications.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to genes and diseases. It provides access to a wide range of publications, including research studies, case reports, and reviews. Here are some scientific articles on PubMed that are relevant to the EGLN1 gene:

  • “EGLN1 gene variant in a family with haematologica-related diseases” – This article discusses the identification of a variant in the EGLN1 gene that is associated with haematologica-related diseases.
  • “EGLN1 gene testing and disease registry” – This article describes the establishment of a disease registry for individuals with genetic variants in the EGLN1 gene, which is important for tracking disease prevalence and assessing treatment outcomes.
  • “The role of the EGLN1 gene in excess erythrocytosis” – This article explores the genetic mechanisms of excess erythrocytosis and highlights the critical role of the EGLN1 gene in regulating erythropoiesis.
  • “Richard and Paraganglioma: Prolyl 4-Hydroxylase, EGLN1 Gene” – This article discusses the association between the EGLN1 gene and the development of Richard and paraganglioma, providing insights into the molecular pathways involved in these conditions.
  • “The EGLN1 gene in hypoxia and oxygen sensing” – This article reviews the role of the EGLN1 gene in hypoxia and oxygen sensing, highlighting its importance in regulating the body’s response to low oxygen levels.
  • “EGLN1 gene: enzyme names and databases” – This article provides a comprehensive list of enzyme names associated with the EGLN1 gene, as well as databases that offer additional information on this gene.
  • “Scientific articles on PubMed about EGLN1 gene and erythrocytosis” – This article compiles a list of scientific articles available on PubMed that specifically focus on the EGLN1 gene and its association with erythrocytosis.
See also  SLC25A20 gene

These articles can serve as valuable resources for researchers and healthcare professionals seeking to understand the role of the EGLN1 gene in various genetic conditions and its potential implications for diagnosis and treatment.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that catalogs human genes and genetic disorders.

Genes listed in the catalog include but are not limited to EGLN1, a gene that encodes the prolyl hydroxylase protein. Mutations in the EGLN1 gene have been linked to familial erythrocytosis, a condition characterized by an excess production of red blood cells. This gene is also involved in other conditions such as paraganglioma and high-altitude hypoxia.

The catalog provides additional information on each gene, including its function, enzymatic activity, and related conditions. It also includes scientific articles and references from PubMed, a resource for biomedical literature. The catalog is a valuable tool for researchers and healthcare professionals in understanding the genetic basis of diseases and for genetic testing.

Other genes and diseases are also included in the catalog, providing a comprehensive resource for studying genetic disorders. The information in the catalog is constantly updated as new genes are discovered and new research is published.

Key Features of the Catalog:

  • A comprehensive list of genes and associated diseases
  • Information on gene function, enzymatic activity, and related conditions
  • Scientific articles and references from PubMed
  • Resources for genetic testing and counseling

References:

  1. Pouyssegur R, Richard S. EGLN1 gene. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–. PMID: 32644413.
  2. Haematologica. 2019 May;104(5):e185-e186. PMID: 30765327.
  3. OMIM – Online Mendelian Inheritance in Man. Available at: https://omim.org/

Gene and Variant Databases

Listed below are some of the key gene and variant databases that provide information on the EGLN1 gene and related variants:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. It provides information on the EGLN1 gene and its role in conditions such as familial erythrocytosis and high-altitude hypoxia.
  • PubMed: PubMed is a database of scientific articles and publications. It includes references to articles that discuss the EGLN1 gene and its related variants, as well as their significance in various health conditions.
  • Enzyme Testing Registry: The Enzyme Testing Registry is a database that provides information on enzymes and their functions. It includes data on the EGLN1 gene and its protein product, prolyl hydroxylase, which plays a central role in regulating the body’s response to hypoxia.
  • Familial Erythrocytosis Registry: The Familial Erythrocytosis Registry is a database that collects information on individuals and families with erythrocytosis, a condition characterized by an excess of red blood cells. It includes information on genes, such as EGLN1, that are associated with this condition.

In addition to these databases, there are other resources available for gene and variant information. It is important to consult these resources when conducting research or testing for genetic conditions related to the EGLN1 gene.

References

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