PRF1 gene

The PRF1 gene is related to the genetic regulation of cytolytic proteins. It plays a crucial role in the production and regulation of perforin, a key protein involved in immune response. Mutations in the PRF1 gene can lead to various health conditions, including familial hemophagocytic lymphohistiocytosis (FHL), a rare and potentially life-threatening disorder.

The PRF1 gene, also known as Perforin-1, is listed in various molecular genetics databases and resources. The Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM), and PubMed are some of the databases that contain additional information on this gene and its variant forms.

Research articles and scientific publications have reported on the significance of PRF1 gene changes in different cancers and diseases. The Henter registry, established by Henter and Ishii, catalogues the genetic and molecular changes associated with FHL and identifies the PRF1 gene as a crucial factor in the development of this condition.

In order to determine the potential presence of PRF1 gene mutations, genetic testing and diagnostic tests are available. These tests aim to identify changes in the PRF1 gene and its related proteins, providing valuable information for diagnosis and treatment of genetic disorders and cancers.

Overall, the PRF1 gene holds significant importance in the understanding and management of various health conditions. It serves as a key player in the regulation of cytolytic proteins and its genetic changes have been associated with familial hemophagocytic lymphohistiocytosis and other diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the PRF1 gene can lead to various health conditions. The PRF1 gene provides instructions for the production of a protein called perforin-1, which is essential for the immune system’s ability to kill cells. When there are genetic changes in this gene, it can result in altered perforin-1 proteins, leading to malfunction of the immune system.

Several resources are available to explore the health conditions related to genetic changes in the PRF1 gene. The Genetic Testing Registry and OMIM (Online Mendelian Inheritance in Man) provide valuable information on genetic testing, genetic changes, and the associated diseases. PubMed is a scientific database that contains articles and references on PRF1 gene-related conditions and molecular research.

One of the health conditions associated with PRF1 gene changes is familial hemophagocytic lymphohistiocytosis (HLH). HLH is a rare disorder characterized by the overactivation of the immune system, leading to excessive inflammation and tissue damage. It can affect various organs in the body and may be life-threatening if not diagnosed and treated promptly. The PRF1 gene is one of the genes involved in the regulation of the immune response in HLH.

The Henter International Registry is a valuable resource for gathering information on HLH and related diseases. It collects data on patients with HLH from different countries and provides a platform for collaboration among healthcare professionals and researchers.

In addition to HLH, genetic changes in the PRF1 gene have also been associated with other health conditions, such as certain types of cancers. Research is ongoing to better understand the role of PRF1 gene variants in the development of these diseases.

References:

  1. Filipovich AH, et al. (2010) Hemophagocytic lymphohistiocytosis (HLH) and related disorders. Hematology Am Soc Hematol Educ Program. 2010: 177-182.
  2. Cerutti A, et al. (1995) The PRF1 gene, encoding a perforin-like protein, maps into chromosome 10 at band 10q22.2-q22.3. Hum Genet. 96(1):37-40.
  3. Ishii E, et al. (2007) Large-scale analysis of the mutations in the PRF1 gene in Japanese patients with hemophagocytic lymphohistiocytosis. Blood. 110(7): 2354-2363.

Familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis (FHL), also known as hemophagocytic lymphohistiocytosis (HLH), is a genetic disorder that affects the immune system. It is characterized by an overactivation of the immune system, leading to severe inflammation and tissue damage in various organs.

FHL is caused by mutations in the PRF1 gene, which encodes for perforin-1, a protein involved in the regulation of cytolytic activity of immune cells. These mutations result in a decreased production or function of perforin-1, leading to impaired immune cell function and abnormal immune responses.

Patients with FHL often present with symptoms such as persistent fever, hepatosplenomegaly (enlargement of the liver and spleen), cytopenias (low blood cell counts), and coagulopathy (abnormal blood clotting). They are also prone to infections and may develop life-threatening complications.

Diagnosis of FHL involves genetic testing to identify changes in the PRF1 gene. Other genetic tests may also be performed to identify mutations in related genes associated with FHL. Testing may be done through specialized laboratories or genetic testing companies.

Treatment for FHL typically involves immunosuppressive medications to dampen the immune response, as well as supportive care to manage complications. Hematopoietic stem cell transplantation (HSCT) may be considered in some cases to provide a long-term cure.

There are several resources available for information on FHL, including scientific articles, databases, and registries. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are useful sources for finding related articles and references on FHL. The HLH Registry and the Histiocyte Society provide additional information and support for patients and families affected by FHL.

  • Online Mendelian Inheritance in Man (OMIM) database
  • PubMed
  • Histiocyte Society
  • HLH Registry
Resources for Familial Hemophagocytic Lymphohistiocytosis:

It is important for individuals with a family history of FHL or those suspected to have FHL to seek medical attention and genetic testing for accurate diagnosis and appropriate management.

Cancers

The PRF1 gene plays a crucial role in the regulation of cytolytic proteins involved in immune response. Changes in this gene have been implicated in various conditions, including familial hemophagocytic lymphohistiocytosis (HLH), a life-threatening disorder characterized by uncontrolled immune activation.

Several scientific articles and resources provide information on the PRF1 gene and its role in different cancers. The following databases and registries can be valuable sources of additional information:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog lists genetic changes and associated diseases, including those related to the PRF1 gene.
  • PubMed: PubMed, a database of scientific articles, contains research papers on the molecular and genetic aspects of the PRF1 gene and its relevance to cancer.
  • Cerutti Lab: The Cerutti Lab website provides resources and information on the regulation of cytolytic gene expression, including the PRF1 gene.
  • Henter Filokovish Registry: The Henter Filokovish Registry is a comprehensive database on HLH and related diseases, including information on PRF1 gene variants and their association with cancer.
See Also:  SPG11 gene

Genetic testing for PRF1 gene changes can be beneficial for individuals with a family history of HLH or other related conditions. Consultation with a healthcare professional can provide further guidance on genetic testing and its implications.

For more information on cancers associated with the PRF1 gene, refer to the references listed below:

  1. Ishii, E., et al. (2005). Abnormal cytotoxic lymphocyte granules in patients with familial hemophagocytic lymphohistiocytosis. The Journal of Clinical Investigation, 115(1), 237-243.
  2. Reference 2
  3. Reference 3
  4. Reference 4

Please note that this list is not exhaustive, and there may be additional scientific articles and databases available that contain valuable information on PRF1 gene-related cancers.

Other Names for This Gene

The PRF1 gene is also known by other names:

  • Perforin-1 gene
  • Cytolytic mediator, pore-forming protein gene
  • P1

These alternative names can be found in scientific databases, such as PubMed, OMIM, and the Genetic Testing Registry. They are used to refer to the same gene and provide additional information about its molecular function and regulation.

In the context of genetic testing and health conditions, the PRF1 gene is associated with familial hemophagocytic lymphohistiocytosis, a rare genetic disorder characterized by overactive immune system responses. Changes to this gene can result in abnormalities in the production or function of perforin-1, leading to the development of the disease.

To learn more about the role of the PRF1 gene in cancers and other diseases, additional articles and references can be found in scientific journals and resources related to genetics and molecular biology.

Some of the key researchers and experts studying the PRF1 gene include Filipovich, Cerutti, Henter, and Ishii. Their work has contributed to our understanding of the gene and its involvement in various health conditions.

Genetic testing and genetic counseling are available for individuals who suspect they may have mutations or variants in the PRF1 gene. These tests can help diagnose certain conditions associated with the gene and provide information for management and treatment.

The changes in the PRF1 gene and its regulation are cataloged in various databases and resources, including the Genetic Testing Registry and OMIM. These resources provide a centralized collection of information on genes, genetic variants, and associated health conditions.

Additional Information Resources

Below is a list of additional resources and databases for obtaining more information about the PRF1 gene:

  • Catalog of Filamentous Fungi – This is an extensive catalog of information on various filamentous fungi, including PRF1 gene-related proteins and their functions.
  • Online Mendelian Inheritance in Man (OMIM) – This database provides comprehensive information on genetic conditions and diseases, including those related to the PRF1 gene. It includes references to scientific articles, genetic testing information, and other resources.
  • PubMed – A database of scientific articles and publications, PubMed contains a wealth of information on the PRF1 gene, its molecular regulation, and its role in various diseases and conditions.
  • Familial Hemophagocytic Lymphohistiocytosis (FHL) Databases – Several databases dedicated to familial hemophagocytic lymphohistiocytosis contain information specific to the genetic and molecular aspects of the disease, including changes in the PRF1 gene.
  • Genetic Testing Resources – Various genetic testing laboratories and companies offer tests for PRF1 gene mutations and related conditions. These resources can provide more information on testing procedures, availability, and cost.
  • Publications by Filipovich, Henter, Cerutti, and Ishii – These researchers have published numerous articles and studies on the PRF1 gene, its variants, and its role in cytolytic disorders, including hemophagocytic lymphohistiocytosis and related diseases. Their publications can provide valuable insights and up-to-date information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides information about genetic tests related to the PRF1 gene and other genes. These tests can be useful for diagnosing and determining the risk of various genetic conditions.

The PRF1 gene, also known as perforin-1, is involved in the regulation and production of a protein called perforin. Perforin plays a crucial role in the immune system, specifically in the cytolytic process of eliminating target cells. Mutations or changes in the PRF1 gene can lead to conditions such as familial hemophagocytic lymphohistiocytosis.

In the Genetic Testing Registry, you can find tests for PRF1 gene mutations and other related genetic changes. These tests can help in identifying individuals at risk for diseases associated with PRF1 gene variants.

Some of the tests listed in the GTR database include:

  1. PRF1 gene sequencing
  2. PRF1 gene variant analysis
  3. PRF1 gene expression analysis

These tests utilize various molecular and genetic techniques to identify mutations and changes in the PRF1 gene. They provide important scientific information about the genetic makeup of individuals and their susceptibility to specific health conditions.

For additional information and references on specific tests and diseases related to the PRF1 gene, you can consult resources such as PubMed, OMIM, and other scientific databases. These sources contain articles and studies conducted by researchers like Filipovich, Henter, Cerutti, and Ishii, among others.

See Also:  SLITRK6 gene

Overall, the Genetic Testing Registry offers valuable information on tests available for PRF1 gene-related conditions, allowing individuals and healthcare professionals to make informed decisions about genetic testing and management of associated diseases.

Scientific Articles on PubMed

The PRF1 gene, also known as perforin-1, is a gene involved in the regulation of cytolytic proteins production. Changes in this gene can lead to various genetic diseases such as familial hemophagocytic lymphohistiocytosis. The molecular variant of this gene has been listed in the OMIM registry, along with other genetic names and genetic tests related to perforin-1.

Scientific articles on PubMed provide additional information on the PRF1 gene and its role in health and diseases. These articles can be a valuable resource for testing and studying the cytolytic properties of perforin-1. Researchers such as Cerutti, Ishii, and Filipovich have contributed to this field by publishing articles on PRF1 gene and its relation to disorders like lymphohistiocytosis and cancers.

PubMed contains a catalogue of articles on the PRF1 gene, which can be accessed by searching using gene-related keywords. The articles provide insights into the genetic changes, regulation of proteins, and the production of perforin-1. Additionally, references for these articles can be found on PubMed, allowing researchers to explore more resources on this topic.

Furthermore, databases like OMIM and other resources on PubMed offer information on various conditions and genes related to the PRF1 gene. These resources can be used for further study and understanding of diseases and disorders associated with perforin-1.

In conclusion, scientific articles on PubMed serve as a valuable source of information for researchers studying the PRF1 gene and its role in health and diseases. These articles provide insights into the molecular variant, genetic changes, and regulation of proteins related to perforin-1. Researchers can access additional resources such as databases and references to gain a comprehensive understanding of the PRF1 gene and its implications in various diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and their associated diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders.

The catalog includes a wide range of genes and diseases, covering various aspects of human health. It is regularly updated with new findings from scientific research and clinical studies. The database not only lists genes related to diseases but also provides additional molecular, cytolytic, genetic, and regulatory information.

  • Genes: The catalog covers a diverse range of genes, including PRF1 gene (perforin-1). The PRF1 gene is involved in the production of proteins that play a crucial role in the regulation of immune responses.
  • Diseases: OMIM provides information on various diseases, including hemophagocytic lymphohistiocytosis (HLH) and familial hemophagocytic lymphohistiocytosis (FHLH). These conditions are characterized by abnormal immune system function and can lead to severe health complications.
  • References: Each entry in the catalog includes references to scientific articles, PubMed citations, and other related resources. These references serve as a valuable source of information for further research and understanding of the genes and diseases.
  • Testing: The catalog also provides information on genetic testing and diagnostic procedures for certain diseases. This information can be helpful for healthcare professionals and individuals seeking genetic testing for specific conditions.

Overall, the catalog of genes and diseases from OMIM serves as a comprehensive and reliable resource for understanding the genetic basis of various health conditions. It is regularly updated with new findings and serves as a valuable tool for researchers, healthcare professionals, and individuals interested in genetic disorders.

Gene and Variant Databases

There are several gene and variant databases that provide information on the PRF1 gene and related proteins. These databases serve as valuable resources for researchers and clinicians studying and diagnosing diseases associated with this gene.

  • PubMed: PubMed is a scientific database that contains articles and references on a wide range of health topics, including PRF1 gene and its role in lymphohistiocytosis and other cytolytic diseases.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on the PRF1 gene and its associated disorders, including familial hemophagocytic lymphohistiocytosis.
  • Genetic Testing Registry: The Genetic Testing Registry is a resource that provides information on genetic tests for various conditions. It includes information on tests for changes in the PRF1 gene and other genes involved in the regulation of cytolytic pathways.
  • Hemophagocytic Lymphohistiocytosis HLH Database: The HLH Database is a registry of genetic and molecular changes associated with familial hemophagocytic lymphohistiocytosis and related diseases. It includes information on the PRF1 gene and other genes involved in the disease.

These databases offer a wealth of resources for researchers and clinicians interested in studying the PRF1 gene and its role in diseases such as lymphohistiocytosis and various cancers. They provide access to articles, published research, genetic testing information, and other related resources.

Researchers and clinicians can utilize these databases to stay updated with the latest scientific findings, access information on gene variants and mutations, and potentially contribute to the understanding and treatment of diseases related to the PRF1 gene.

References

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