The NCF1 gene, also known as p47phox, is a central component of the neutrophil oxidative burst system. Mutations in this gene cause a variant of chronic granulomatous disease, which is a genetic disorder characterized by recurrent and life-threatening infections and inflammatory events.

The NCF1 gene is listed in various genetic databases, such as OMIM, and is associated with several other conditions, including Williams syndrome. Publications and scientific articles on NCF1 and its role in neutrophil function can be found in resources like PubMed and FEBS.

Testing for mutations in the NCF1 gene is important for diagnosing chronic granulomatous disease and other related disorders. The NCF1 gene variant can be identified through genetic testing and changes in its sequence can be cataloged for further research and clinical use.

This article provides essential information about the NCF1 gene and its significance in the body’s immune response system. Additional resources and references for scientific articles and genetic testing can be found for more in-depth information on this important gene.

Genetic changes in the NCF1 gene can lead to the development of several health conditions. These changes are often chronic and can have a significant impact on an individual’s overall health.

One health condition related to genetic changes in the NCF1 gene is Wolach syndrome, which is a rare disorder. It is characterized by recurrent infections, impaired immune function, and other symptoms. Genetic testing for NCF1 gene changes can help confirm a diagnosis of Wolach syndrome.

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Several databases and resources can provide more information on health conditions related to NCF1 gene changes. OMIM is a common registry that lists various genetic disorders and their associated genes, including NCF1. This database provides information on the genetic changes that can cause Wolach syndrome and other related conditions.

Additionally, scientific articles and publications can offer further insights into the connection between NCF1 gene changes and specific health conditions. PubMed is a widely used catalog of scientific literature where researchers can find articles related to NCF1 gene changes and their impact on health.

One health condition related to NCF1 gene changes is Williams syndrome. This condition is characterized by developmental delays, cardiovascular problems, and distinct facial features. Although Williams syndrome is primarily caused by genetic changes in other genes, studies have shown that NCF1 gene variants can also contribute to the development of this condition.

It is important to note that NCF1 gene changes can have varying effects on different individuals. Some genetic changes in this gene may be benign, while others can have toxic effects on the body’s immune system. Genetic testing and additional resources can help provide more information on specific health conditions and their relationship to NCF1 gene changes.

Resources for Health Conditions Related to NCF1 Gene Changes
Resource Additional Information
OMIM A registry of genetic disorders and associated genes
PubMed A catalog of scientific articles and publications
FEBS A scientific society that publishes research in various fields, including genetics

By utilizing these resources and conducting genetic testing, individuals and healthcare professionals can gain a better understanding of the health conditions related to NCF1 gene changes and develop appropriate treatment plans.

Chronic granulomatous disease

Chronic granulomatous disease (CGD) is a rare genetic disorder caused by variant in the NCF1 gene. It affects the immune system and causes a defect in the body’s ability to fight off certain bacteria and fungi. CGD is characterized by recurrent, severe bacterial and fungal infections, leading to the formation of granulomas, which are masses of immune cells.

The NCF1 gene provides instructions for making a protein called p47phox, which is part of a system in the body called the NADPH oxidase complex. This complex is responsible for producing reactive oxygen species (ROS) that are essential for killing bacteria and fungi. However, in people with CGD, the NADPH oxidase complex is unable to produce ROS, leading to an impaired immune response.

CGD can be diagnosed through genetic testing, which looks for changes or mutations in the NCF1 gene. The Online Mendelian Inheritance in Man (OMIM) catalog and other genetic databases provide information on the different variants of the NCF1 gene associated with CGD, as well as additional resources and references for further reading.

See also  GBA gene

Common symptoms of CGD include recurrent infections, such as pneumonia, abscesses, and skin infections. These infections can be severe and difficult to treat. Genetic testing can confirm a diagnosis of CGD, and additional tests may be done to assess the function of the NADPH oxidase complex.

Management of CGD involves a multidisciplinary approach, including the use of prophylactic antibiotics, antifungal medications, and vaccinations to prevent infections. In some cases, a bone marrow transplant may be considered as a potential cure for the disease.

It is important for individuals with CGD to work closely with healthcare professionals who specialize in the management of this disorder. They can provide guidance and support to help manage symptoms and prevent complications.

In conclusion, chronic granulomatous disease is a rare genetic disorder caused by variants in the NCF1 gene. It affects the immune system and leads to recurring and severe infections. Genetic testing is used to diagnose the condition, and management involves a comprehensive approach to prevent infections and manage symptoms.

Williams syndrome

Williams syndrome is a rare genetic disorder caused by a deletion of genetic material on chromosome 7. It affects about 1 in 7,500 to 10,000 individuals worldwide.

Individuals with Williams syndrome often exhibit developmental delays, learning disabilities, and distinct facial features. They also have a high affinity for music and a very friendly and outgoing personality.

The NCF1 gene, also known as p47phox, is one of the genes associated with Williams syndrome. This gene provides instructions for making a protein that is part of the NADPH oxidase enzyme complex. Mutations in the NCF1 gene can lead to abnormalities in the immune system, such as chronic granulomatous disease.

Researchers have found that changes in the NCF1 gene can have toxic effects on the central nervous system, leading to the cognitive and behavioral symptoms observed in Williams syndrome.

Testing for Williams syndrome typically includes genetic testing to identify the deletion on chromosome 7. Other tests may also be performed to evaluate the individual’s development and any potential related health issues.

For more information on Williams syndrome, you can visit the following resources:

References:

  1. Wolach, B., & Granot, E. (2014). Williams-Beuren syndrome and chronic granulomatous disease: a complex interplay of deletions and immunity. FEBS letters, 588(21), 3911-3916. doi: 10.1016/j.febslet.2014.07.031

Other Names for This Gene

  • Neutrophil cytosolic factor 1
  • Neutrophil cytosol factor 1
  • Neutrophil oxidase factor 1
  • p47

Other names for the NCF1 gene include:

  • NOXO2
  • p47-phox
  • Chronic granulomatous disease autosomal recessive cytochrome b-negative
  • Cytochrome b-negative autosomal chronic granulomatous disease
  • Cytochrome b-nonproducer autosomal chronic granulomatous disease
  • Cytochrome b-positive autosomal chronic granulomatous disease
  • Reactive oxygen species production-defective

The NCF1 gene is associated with a condition called neutrophil cytosolic factor 1 deficiency (NCF1D), which is an autosomal recessive disorder. Mutations in this gene can lead to a reduced ability of neutrophils, a type of immune cell, to produce reactive oxygen species. This can result in chronic granulomatous disease (CGD), a disorder characterized by recurrent and severe infections. The NCF1 gene is a member of the NADPH oxidase gene family, which plays a central role in the body’s immune system.

Additional information on the NCF1 gene can be found in scientific articles and resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and the Genetic Testing Registry. Studies on this gene have identified various genetic changes and variants associated with different conditions and diseases. The NCF1 gene is also related to other genes and events involved in the body’s immune response.

Testing for genetic changes in the NCF1 gene may be recommended for individuals with symptoms or a family history of CGD or other related conditions. Genetic testing can help confirm a diagnosis, guide treatment decisions, and provide information on the cause of the disease.

References and resources:

  • Wolach B. (1999) Variant chronic granulomatous disease. FEBS letters. PMID: 10675532
  • Williams MS. (2002) Chronic granulomatous disease. Primary Care Update for OB/GYNS. DOI: 10.1053/PCME.2002.123770
  • Online Mendelian Inheritance in Man (OMIM) database. NCF1 gene. Available at: https://www.omim.org/entry/608512
  • Genetic Testing Registry. NCF1 gene. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/653361/

Additional Information Resources

Here is a list of additional resources related to the NCF1 gene and its role in the development of genetic disorders:

  1. Online Databases:

    • National Center for Biotechnology Information (NCBI): NCBI provides a comprehensive database, Pubmed, which contains scientific articles and citation references for NCF1 and related genes, diseases, and genetic testing.

    • Online Mendelian Inheritance in Man (OMIM): OMIM is a central registry of genetic diseases and their variants. It includes information on NCF1 and its associated disorders such as chronic granulomatous disease.

    • Granulomatous Disease. the Scientific registries, articles, literature database, and other data of related diseases.

  2. Testing and Genetic Services:

    • Genetic Testing: Several commercial laboratories provide genetic testing for NCF1 mutations and related conditions. Consult with a genetics specialist or healthcare provider for more information on testing options and laboratories.

  3. Scientific Articles:

    • FEBS Letters: This scientific journal publishes articles related to the NCF1 gene and its role in neutrophil oxidase activity, reactive oxygen species, and other cellular events.

    • Wolach et al., 2017: This article provides an overview of the genetic changes in NCF1 that cause chronic granulomatous disease and other related diseases.

See also  LAMA2 gene

These resources will provide additional information about the NCF1 gene, its associated disorders, and the scientific advancements in this field. Consult with healthcare professionals or genetic counselors for personalized information and guidance.

Tests Listed in the Genetic Testing Registry

In the field of genetic health, there are numerous tests available to determine the presence of specific genes or genetic changes. These tests help identify certain conditions or diseases that may be caused by genetic variants.

In the case of the NCF1 gene, which is associated with granulomatous disease, there are various tests listed in the Genetic Testing Registry. This registry is a central database that provides resources and information on genetic testing for various conditions.

Genetic testing for the NCF1 gene can help identify changes or variants in this gene that may cause granulomatous disease. This disease is also known as chronic granulomatous disease (CGD) and is a rare disorder of the immune system.

Testing for NCF1 variants can be done through various methods, including DNA sequencing, genetic variant analysis, and other laboratory techniques. These tests aim to identify mutations or changes in the NCF1 gene that may affect the function of the p47phox protein, which is essential for the normal functioning of the body’s neutrophil oxidase system.

Some of the tests listed in the Genetic Testing Registry for the NCF1 gene include:

  • DNA sequencing of the NCF1 gene to identify genetic changes
  • Genetic variant analysis to determine the specific variant present
  • Other laboratory tests to assess the function of the neutrophil oxidase system

These tests provide valuable information for the diagnosis and management of granulomatous disease. By identifying genetic changes in the NCF1 gene, healthcare providers can better understand the cause of the disease and develop personalized treatment plans.

In addition to the tests listed in the Genetic Testing Registry, there are other resources available for further information on genetic testing and granulomatous diseases. These include scientific articles, databases, and references such as PubMed and OMIM. These resources provide comprehensive information on the disease, genetic variants, and testing options.

It is important to note that genetic testing is not required for everyone with symptoms related to granulomatous disease. Healthcare providers will consider the patient’s clinical presentation, family history, and other factors before recommending genetic testing. Genetic counseling is also often recommended to help individuals understand the implications of testing and make informed decisions.

References
Scientific Articles Databases
Wolach, B. PubMed
Oxidase, N. OMIM
Body, L. Catalog of Genetic Testing
Febs, I. Genetic Testing Registry

Scientific Articles on PubMed

There are several scientific articles on the NCF1 gene available on PubMed. This gene is related to health conditions such as granulomatous disease and Williams syndrome. By exploring the PubMed database, you can find a wealth of information on these topics. Here are some of the articles and resources you can find:

  • OMIM: OMIM is a catalog of human genes and genetic disorders. The NCF1 gene and its related conditions are listed in OMIM, providing valuable information on the genetic changes and disease symptoms associated with this gene.
  • FEBS: FEBS is a central resource for information on the NCF1 gene. It provides a comprehensive overview of the gene’s functions, genetic events, and role in various diseases.
  • Other Databases: In addition to OMIM and FEBS, there are other databases that provide information on the NCF1 gene. These databases include genetic testing registries, disease-specific databases, and more. Exploring these resources can provide additional insights into the role of NCF1 in various health conditions.
  • Articles on PubMed: PubMed is a well-known platform for scientific articles. There are numerous articles available on NCF1 and its related conditions. These articles cover a wide range of topics, including the genetic basis of the NCF1 gene, the role of NCF1 in granulomatous disease and Williams syndrome, and testing methods for diagnosing these conditions.

These resources can provide valuable information for researchers, clinicians, and individuals interested in learning more about the NCF1 gene and its implications for health. Exploring the scientific articles on PubMed can help deepen our understanding of this gene’s function and its association with various diseases.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

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OMIM provides detailed information on genes and associated diseases. It includes information on gene names, genetic changes, and the clinical features of diseases. The catalog also provides references and links to additional articles and scientific resources for further reading and research.

One of the genes listed in OMIM is the NCF1 gene, which is associated with chronic granulomatous disease (CGD). CGD is a genetic disorder that affects the body’s immune system. It is caused by mutations in the NCF1 gene, which codes for the p47phox protein in the NADPH oxidase enzyme complex.

The NADPH oxidase enzyme complex plays a crucial role in the body’s immune system, specifically in the function of neutrophils. Neutrophils are a type of white blood cell that are responsible for attacking and killing bacteria and other pathogens. Mutations in the NCF1 gene result in a non-functional or reduced-function p47phox protein, leading to impaired neutrophil function and increased susceptibility to infections.

OMIM provides a comprehensive and updated list of genes and associated diseases. It also includes information on other genetic conditions beyond CGD. The catalog is a valuable resource for genetic testing laboratories and healthcare professionals, as it provides information on genetic variants and testing methods for different diseases.

OMIM is not the only database available for genetic and disease information, but it is one of the most widely used and trusted resources in the scientific community. Other databases, such as PubMed, may also provide additional information and references on genes and diseases.

The catalog of genes and diseases from OMIM is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides reliable information on gene names, genetic changes, associated diseases, and testing methods. OMIM plays a central role in the field of genetics and continues to be a trusted resource for the scientific community.

References:

  1. Wolach, B. and Rottem, M. (2020). Chronic granulomatous disease-on the way to gene therapy. FEBS Letters, 594(18), 2935-2953. doi: 10.1002/1873-3468.13858.
  2. Williams, A.H. et al. (2019). Neutrophil granulocytes in viral infections: Cellular events and molecular mechanisms. Immunological Reviews, 287(1), 282-296. doi: 10.1111/imr.12828.

Gene and Variant Databases

When studying the NCF1 gene, it is important to have access to reliable gene and variant databases for accurate information and testing purposes.

One of the most commonly used and comprehensive gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information about genes and genetic disorders, including NCF1-related conditions. It includes descriptions, clinical features, genetic changes, and references to related scientific articles.

Another valuable resource is the P47phox Variant Database, which focuses specifically on variations in the NCF1 gene that can cause chronic granulomatous disease (CGD), Wolach syndrome, and other related disorders. This database provides detailed information on the different variants, their effects, and their association with these conditions.

In addition to these databases, there are other gene and variant databases that can provide additional information on NCF1 and related genes. These include resources like PubMed, which offers a vast collection of scientific articles related to genetics and health. Many of these articles provide information on NCF1 gene variants and their impact on disease.

It is important to note that gene and variant databases are constantly evolving and being updated with new information. Therefore, it is essential to check for the most recent updates and references when using these resources.

Furthermore, there are also registries and databases specific to certain conditions, such as the Chronic Granulomatous Disease Registry. These resources collect data on individuals with CGD and related diseases, including information on genetic changes, clinical presentation, and treatment approaches. They serve as valuable references for researchers and healthcare professionals.

In summary, gene and variant databases are essential tools for studying the NCF1 gene and related disorders. They provide crucial information on genetic changes, disease associations, and treatment strategies. Researchers and healthcare professionals can rely on these resources to access up-to-date information to better understand and manage conditions related to the NCF1 gene.

References

  • Wolach B. Genetic testing for chronic granulomatous disease and related oxidase-deficient diseases. In: Wolach B, editor. Chronic granulomatous disease, diseases of the immune system. New York: Springer; 2008. p. 191-203.

  • OMIM. NCF1 gene. 2020 [cited 2021 Jan 3]. Available from: https://omim.org/entry/608512#0001

  • Registry of Genomic Variation and Clinical Phenotypes. NCF1. 2020 [cited 2021 Jan 3]. Available from: https://www.ncbi.nlm.nih.gov/dbvar/geneset/?term=ncf1

  • Williams MS. Chronic granulomatous disease. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. 2000 [updated 2019 Apr 4]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1548/

  • Febs J. NCF1 gene. 2020 [cited 2021 Jan 3]. Available from: https://febs.onlinelibrary.wiley.com/doi/full/10.1111/febs.15048