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The EPX gene, also known as eosinophil peroxidase gene, codes for the eosinophil peroxidase protein located in eosinophils. Eosinophils are a type of white blood cell involved in the immune response and are also associated with allergic reactions and asthma. Eosinophil peroxidase is an enzyme that plays a crucial role in the elimination of pathogens and parasites.

Genetic changes in the EPX gene can lead to various conditions and diseases. Deficiency of eosinophil peroxidase can result in impaired immune function and increased susceptibility to infections. Additionally, mutations in this gene have been associated with other diseases such as eosinophil-associated gastrointestinal disorders and eosinophilic esophagitis.

There are several resources available that provide information on the EPX gene and related genetic conditions. The Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and other scientific databases list articles and references on this gene and its variants. Genetic testing and registries also offer testing and information on EPX gene-related diseases.

Genetic changes in the EPX gene can result in various health conditions related to the production of proteins called eosinophil peroxidase (EPO). Eosinophils are a type of white blood cell that plays a role in the immune response.

The EPX gene provides instructions for the production of eosinophil peroxidase. This enzyme is involved in the formation of reactive oxygen species, which are important for the killing of certain pathogens. Genetic changes in the EPX gene can lead to alterations in the structure or function of eosinophil peroxidase, resulting in health conditions.

Scientific articles and databases, such as PubMed and Online Mendelian Inheritance in Man (OMIM), provide additional information on the health conditions related to EPX gene changes. These resources catalog the names and characteristics of the diseases associated with the EPX gene variant.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

Some of the health conditions associated with genetic changes in the EPX gene include:

  • Eosinophil peroxidase deficiency
  • Eosinophilic disorders

Testing for genetic changes in the EPX gene can be conducted to identify individuals who may be at risk for these health conditions. Medical professionals can refer to the EPX gene registry and other genetic testing resources for more information and references.

Eosinophil peroxidase deficiency

Eosinophil peroxidase deficiency is a genetic condition that results in a lack of the eosinophil peroxidase protein, which is encoded by the EPX gene. Eosinophils are a type of white blood cell that helps the immune system fight off parasitic infections and plays a role in allergic reactions.

This deficiency is typically caused by changes in the EPX gene, including variants that affect the production or function of the eosinophil peroxidase protein.

Additional information on eosinophil peroxidase deficiency can be found in the following resources:

  • Online Databases: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic diseases, including eosinophil peroxidase deficiency.
  • Scientific Journals: Many scientific articles have been published on topics related to eosinophil peroxidase deficiency. These articles can provide further insights into the condition and its genetic basis.
  • Registry and Testing: There are registries where individuals with eosinophil peroxidase deficiency can register for further research and testing options.
See also  LIMK1 gene

It is important to note that eosinophil peroxidase deficiency is not the only genetic condition that affects eosinophils. There are several other genes and proteins involved in the normal function of eosinophils, and changes in these genes can lead to different diseases and conditions.

If you suspect you have eosinophil peroxidase deficiency or have any concerns about your health, it is recommended to consult with a healthcare professional. They can provide guidance on appropriate genetic testing and help navigate available resources for further information and support.

Other Names for This Gene

This gene, known as EPX, is also referred to by other names:

  • Eosinophil peroxidase
  • Eosinophil-specific peroxidase
  • Peroxidase, eosinophil
  • EP
  • EP1
  • EPX-1
  • EOSP

These names are used interchangeably to describe the same gene and its related proteins.

Additional Information Resources

Here are some additional resources with information related to the EPX gene and its genetic variants:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic variants, diseases, and conditions related to the EPX gene. OMIM can be accessed at https://www.omim.org/

  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “EPX gene” on PubMed can provide you with a wealth of information on the gene, related proteins, and any changes or variants associated with it. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/

  • EOSinophil Peroxidase Deficiency registry: The EOSinophil Peroxidase Deficiency (EPD) registry is a catalog of individuals with EPX gene variants and related conditions. The registry collects data on clinical presentations, diagnostic tests, and treatment outcomes. More information can be found at https://www.epdregistry.org/

  • Genetic testing: If you suspect a variant in the EPX gene or related proteins, genetic testing can provide a definitive diagnosis. Consult a genetic counselor or healthcare professional for more information on available tests and clinics.

  • Health information websites: Websites like the National Institutes of Health (NIH) and the Eosinophil Network provide information on various conditions and diseases related to eosinophils and the EPX gene. These websites can be valuable resources for learning more about the topic.

Please note that the above resources are not exhaustive, and there may be additional databases, articles, and references available. It is always advisable to consult multiple sources and seek guidance from healthcare professionals for accurate and up-to-date information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests available for a wide range of conditions. In the context of the EPX gene, the GTR lists several genetic tests related to this gene and its variants.

Genetic testing is a process that analyzes an individual’s DNA to identify changes or variations in specific genes. This testing can help in diagnosing genetic conditions, determining the risk for certain diseases, and guiding treatment decisions.

The EPX gene, also known as eosinophil peroxidase, is involved in the production of proteins that are important for the function of eosinophils – a type of white blood cell. Changes or mutations in this gene can result in disorders related to eosinophils, such as eosinophil peroxidase deficiency.

In the GTR, there are tests listed for this gene, including:

  • Eosinophil Peroxidase (EPX) Gene Sequencing
  • Eosinophil Peroxidase (EPX) Gene Deletion/Duplication Analysis
  • Eosinophil Peroxidase (EPX) Gene Mutations Analysis
See also  ANTXR2 gene

These tests involve sequencing, deletion/duplication analysis, and mutation analysis of the EPX gene to identify any changes or abnormalities. The results of these tests can provide valuable information about the presence of variants or mutations in this gene.

In addition to the GTR, there are other databases that provide information on genetic tests and related conditions. PubMed, for example, is a scientific database that contains articles and references related to genetic testing and diseases. OMIM (Online Mendelian Inheritance in Man) is another database that provides comprehensive information on genetic conditions and associated genes.

For more information and resources on genetic testing, individuals can refer to the GTR, PubMed, OMIM, and other health catalogs. These resources can help in understanding the genetic changes and their impact on health.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles on various topics including the EPX gene. The EPX gene, also known as eosinophil peroxidase, is involved in the production of certain proteins in eosinophils, a type of white blood cell. Changes or deficiencies in this gene can result in various health conditions.

When searching for scientific articles on PubMed related to the EPX gene, you can find information on genetic testing, registry databases, and other resources for diagnosing and understanding the genetic changes associated with this gene. These articles provide valuable insights into the role of the EPX gene in eosinophil function and its implications for diseases and conditions.

One of the key uses of this information is for genetic testing. By identifying variations or deficiencies in the EPX gene, healthcare professionals can better understand the underlying causes of certain health conditions and tailor treatment plans accordingly. This can be particularly useful for individuals experiencing eosinophil-related disorders.

In addition to genetic testing, scientific articles on PubMed also provide references to other research, studies, and databases that further explore the role of the EPX gene. These resources can help researchers and healthcare professionals gather additional information and stay updated on the latest advancements in understanding and managing conditions associated with the EPX gene.

Some of the health conditions associated with EPX gene changes include eosinophilic esophagitis, asthma, and other eosinophil-related disorders. By accessing scientific articles on PubMed, healthcare professionals can gain a deeper understanding of the molecular mechanisms behind these conditions and explore potential treatment options.

Overall, PubMed serves as a powerful tool for accessing scientific articles and information on the EPX gene. It provides a comprehensive catalog of references that can help researchers, healthcare professionals, and individuals seeking information on genetic changes associated with the EPX gene and eosinophil-related diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information on various genetic conditions and the genes associated with them. This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about genetic disorders.

OMIM contains a vast database of genes and diseases, including those related to eosinophils. Eosinophils are a type of white blood cell that plays a role in the immune response. Changes in the genes associated with eosinophils can result in various health conditions.

The catalog provides detailed information on each gene and disease, including the associated symptoms, inheritance pattern, and molecular basis. It also lists other genetic variants and diseases related to the gene of interest.

See also  FAH gene

OMIM serves as a reference for genetic testing laboratories, allowing them to identify and catalogue genetic changes associated with specific diseases. Healthcare providers can use this information to make informed decisions regarding testing and treatment options.

OMIM references scientific publications and provides additional information on each gene and disease. It includes links to PubMed, a database of scientific articles, for further reading and research.

The catalog organizes genes and diseases in a user-friendly format. It uses tables and lists to present information in an organized manner. The catalog provides gene names, protein names, deficiency names, and other related names to facilitate easy identification. It also includes references to other resources for further information.

Overall, the catalog of genes and diseases from OMIM is a valuable tool for understanding the genetic basis of various conditions. It serves as a comprehensive and up-to-date resource for researchers, healthcare professionals, and individuals seeking information on genetic disorders and related genes.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide information about changes in genes and proteins associated with different conditions. In the case of the EPX gene, which codes for eosinophil peroxidase, several databases offer information on genetic variants and their impact.

One of the most comprehensive databases is the Online Mendelian Inheritance in Man (OMIM), which provides a catalog of genes and genetic disorders. Searching for “EPX gene” in OMIM displays a list of related articles, genetic tests, and diseases associated with EPX deficiency and other conditions involving eosinophils.

Another useful database is PubMed, which is a scientific literature database. Searching for “EPX gene” on PubMed can yield articles and references related to the gene’s function, structure, and involvement in different diseases.

The NCBI Gene database is another valuable resource that provides information about genes, including the EPX gene. It includes gene names, genetic variants, protein products, and links to other databases and resources.

For variant-specific information, several specialized databases are available. The Human Gene Mutation Database (HGMD) provides comprehensive information on genetic variants associated with diseases. The Exome Aggregation Consortium (ExAC) database offers information on variants found in population studies.

In addition to these databases, there are also registries specifically designed to collect variant information from genetic testing laboratories and clinics. These include the ClinVar database, which collects variant interpretations and their clinical significance, and the Genetic Testing Registry (GTR), which provides information on genetic tests available for a specific gene or condition.

Overall, gene and variant databases are essential tools for researchers, healthcare professionals, and individuals interested in learning more about specific genes and their associated variants. They provide a wealth of information that can contribute to a better understanding of genetic conditions and guide further research and testing.

References

  • Health, OMIM. “EPX gene – peroxidase, eosinophilic”. The Online Mendelian Inheritance in Man catalog. Retrieved from:
    OMIM [https://omim.org/entry/606579?search=EPX&highlight=epx]
  • “EPX Gene”. Genetics Home Reference. U.S. National Library of Medicine. Retrieved from:
    Genetics Home Reference [http://ghr.nlm.nih.gov/gene/EPX]
  • “EPX peroxidase, eosinophilic [Homo sapiens (human)]”. PubMed. Retrieved from:
    PubMed [https://pubmed.ncbi.nlm.nih.gov/?term=EPX+peroxidase%2C+eosinophilic%5Bhomo+sapiens%5D]
  • “EPX gene”. The Human Gene Mutation Database. Retrieved from:
    The Human Gene Mutation Database [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=EPX]
  • “EPX: gene expression for Eosinophil Peroxidase”. The Human Protein Atlas. Retrieved from:
    The Human Protein Atlas [https://www.proteinatlas.org/ENSG00000115263-EPX]

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