The NCF4 (Neutrophil Cytosolic Factor 4) gene is a reactive gene that plays a crucial role in various biological processes related to the immune system. It has been extensively studied and researched by scientific communities and researchers around the world.
Several databases, resources, and references provide central information on the NCF4 gene, its variants, and the changes it undergoes under different conditions. These toxic changes in the genetic structure of the NCF4 gene can cause or contribute to various granulomatous diseases listed in the Registry of Diseases.
The OMIM (Online Mendelian Inheritance in Man) database and other related genetic databases also provide additional information on the NCF4 gene and its role in health and disease. Articles and scientific studies published in reputable journals further explore the significance of the NCF4 gene and its variants in different oxygen-exposed conditions.
The NCF4 gene is responsible for encoding a protein that is part of the NADPH oxidase complex, which is crucial for the production of reactive oxygen species in neutrophils. Mutations or genetic abnormalities in the NCF4 gene can lead to dysfunction of the NADPH oxidase complex and consequently cause or contribute to chronic inflammatory diseases and other related conditions.
Further scientific and clinical testing is required to fully understand the implications of the NCF4 gene in various diseases and to develop targeted therapies for those affected.
Note: This information is for reference purposes only and should not be considered as a substitute for professional medical advice or diagnosis. Consult a qualified healthcare professional for more information on the NCF4 gene and its implications in specific diseases.
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Health Conditions Related to Genetic Changes
Genetic changes in the NCF4 gene have been associated with various health conditions. Some of these conditions are:
- Chronic Granulomatous Disease (CGD) – This is a rare genetic disease that affects the immune system. CGD is caused by changes in genes involved in the production of reactive oxygen species (ROS), including the NCF4 gene.
- Reactive Oxygen Species (ROS) Production Defects – Genetic changes in the NCF4 gene can lead to defects in the production of ROS, which are important in the immune response.
- Neutrophil Dysfunction – Neutrophils are a type of white blood cell that plays a vital role in the immune system. Genetic changes in the NCF4 gene can result in neutrophil dysfunction.
- Other Health Conditions – Genetic changes in the NCF4 gene may also be associated with other health conditions that are not yet well understood.
To learn more about these health conditions and the genetic changes in the NCF4 gene, it is recommended to consult scientific articles, databases, and registries dedicated to genetic testing and disease information. Some of the resources that provide additional information on related conditions and genetic changes include:
- Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders, including information on the NCF4 gene and related diseases.
- PubMed – PubMed is a database of scientific articles and research papers that contain references and information on genetic changes in the NCF4 gene and related health conditions.
- Genetic Testing Registries – Genetic testing registries can provide information on available tests for genetic changes in the NCF4 gene and other related genes.
- Toxic Databases – Some toxic databases provide information on the potential toxic effects of genetic changes in the NCF4 gene and other genes involved in ROS production.
It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and management of health conditions related to genetic changes in the NCF4 gene. They can provide personalized advice and guidance based on individual circumstances.
Chronic granulomatous disease
Chronic granulomatous disease (CGD) is a genetic disease that affects the neutrophil cells in the immune system. It is caused by mutations in genes involved in the production of reactive oxygen species (ROS) by neutrophils, particularly the NCF4 gene.
CGD is characterized by recurrent and severe infections, such as pneumonia, skin abscesses, and infections of the bones and internal organs. The disease is chronic and often leads to the development of granulomas, which are clusters of immune cells that form in response to chronic inflammation.
The NCF4 gene, also known as the p40phox gene, is part of the NADPH oxidase complex, which is responsible for the production of ROS by neutrophils. Mutations in this gene prevent the proper functioning of the oxidase complex, leading to a decrease in ROS production and impaired immune response.
CGD is a rare disease, with an estimated prevalence of 1 in 200,000 to 250,000 individuals. It is usually diagnosed in childhood, although milder forms of the disease may not be detected until adulthood. Diagnosis is typically confirmed through genetic testing, which can identify mutations in the NCF4 gene or other genes associated with CGD.
There are several resources available for individuals and families affected by CGD. The National Institutes of Health (NIH) provides information on the disease, including a registry of CGD patients and a catalog of genetic testing and research resources related to CGD. The CDC also has a webpage dedicated to CGD, which includes information on symptoms, diagnosis, and treatment options.
In addition to these resources, scientific articles and databases such as PubMed can provide further information on the genetic cause, clinical manifestations, and management of CGD. These sources can be useful for healthcare professionals and researchers studying the disease.
Overall, CGD is a complex and rare genetic disease that affects the neutrophil cells in the immune system. Understanding the genetic basis of this disease, such as mutations in the NCF4 gene, is crucial for diagnosis, treatment, and ongoing research.
Other Names for This Gene
- Testing Variant
- Diseases Other Than NCF4
- Conditions Associated with NCF4
In scientific literature and databases such as OMIM, NCF4 may be referred to by other names or symbols. These alternative names can be helpful when searching for additional information about the gene or when looking for related genes and diseases. Some of the other names for NCF4 include:
| Name | Description |
|---|---|
| Neutrophil Cytosolic Factor 4 (Genetic Disease, Granulomatous) | This is the official name of the NCF4 gene as listed in the OMIM database. It reflects the gene’s involvement in genetic diseases with granulomatous features. |
| Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Negative | This name describes a specific disease caused by changes in the NCF4 gene. It is a form of chronic granulomatous disease characterized by the absence of cytochrome b in neutrophils. |
| Cytochrome B Positive Autosomal Recessive Chronic Granulomatous Disease Type II | This name is another way to describe the same form of chronic granulomatous disease caused by NCF4 gene mutations. It indicates that the disease is characterized by the presence of cytochrome b in neutrophils. |
| Reactive Oxygen Species Modulator, NCF4 Subunit | This name highlights the role of the NCF4 gene in regulating the production of reactive oxygen species, which are important for immune responses and cellular signaling. |
These names and their associated diseases are listed in various genetic disease catalogs, including OMIM, and can be found in scientific articles, databases, and resources such as PubMed.
Additional Information Resources
For additional information on the NCF4 gene and its variants, you can refer to the following resources:
- PubMed: PubMed is a database of scientific articles and publications. It provides a wealth of information on the NCF4 gene, its role in reactive oxygen species production, and its association with various diseases, including granulomatous diseases, chronic granulomatous disease, and other related conditions.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic conditions and the genes associated with them. It provides detailed information on the NCF4 gene, its variants, and the diseases they may cause.
- Gene Databases: Various gene databases, such as the National Center for Biotechnology Information (NCBI) Gene database, provide information on the NCF4 gene, including its structure, function, and associated diseases.
- NADPH Oxidase Registry: The NADPH Oxidase Registry is a central hub for information on genetic changes in the NCF4 gene and other related genes. It serves as a valuable resource for researchers studying the role of NCF4 in health and disease.
- References and Articles: Numerous scientific articles and research papers have been published on the NCF4 gene and its variants. These articles provide in-depth information on the gene’s function, its association with diseases, and potential therapeutic targets.
- Toxic and Reactive Oxygen Species: Several resources are available to learn more about the toxic and reactive oxygen species produced by NCF4 and other related genes. These resources can help understand the impact of NCF4 gene changes on cellular processes and disease development.
These resources offer a wide range of additional information on the NCF4 gene, its variants, and their association with various diseases. Exploring these resources can provide a deeper understanding of the genetic basis of diseases and the potential for developing diagnostic tests and therapies.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various conditions. In the context of the NCF4 gene, the GTR lists tests related to chronic granulomatous disease (CGD). CGD is caused by changes in genes involved in the production of oxygen radicals by neutrophils.
The NCF4 gene encodes a subunit of the NADPH oxidase enzyme, which is responsible for generating reactive oxygen species. Changes in the NCF4 gene can result in a dysfunctional NADPH oxidase enzyme, leading to CGD.
The GTR lists several tests for CGD that involve the NCF4 gene. These tests help identify variants or changes in the NCF4 gene that may be responsible for the disease. The tests listed in the GTR provide valuable genetic information and aid in the diagnosis and management of CGD.
Additional resources such as OMIM, PubMed, and other genetic testing databases can provide more scientific and genetic references for diseases related to the NCF4 gene and CGD.
In summary, the Genetic Testing Registry lists tests for CGD related to the NCF4 gene. These tests help identify changes or variants in the NCF4 gene that may cause CGD. The GTR provides important genetic information and resources for health professionals and researchers working in the field of CGD and related diseases.
Scientific Articles on PubMed
PubMed is a scientific database that provides a vast collection of articles on various topics. It is a valuable resource for researchers and scientists looking for information on different diseases, genetic conditions, and genetic testing.
From this scientific database, researchers can access articles related to the NCF4 gene and its role in causing diseases. The NCF4 gene, also known as NADPH oxidase 4, is associated with a condition called chronic granulomatous disease (CGD) and other oxygen-related genetic conditions.
CGD is a rare genetic disorder characterized by recurrent and severe infections due to defects in the body’s ability to fight certain bacteria and fungi. The NCF4 gene variant is listed in the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic changes that cause diseases.
Scientific articles on PubMed provide additional information about the NCF4 gene and its association with CGD and other diseases. These articles often include references to other studies, databases, and resources that researchers can explore for further research.
Researchers can find articles that discuss the testing and health implications of NCF4 gene variants. They can also find articles that explore the link between the NCF4 gene and other toxic or reactive oxygen-related conditions.
PubMed’s extensive collection of scientific articles on the NCF4 gene and related topics makes it a valuable resource for researchers and scientists studying genetic conditions and diseases. The articles present the latest research findings and contribute to the understanding of the role of the NCF4 gene in various health conditions.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases that provides scientific information on genetic conditions. This database is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding genetic disorders.
The NCF4 gene, also known as neutrophil cytosolic factor 4, is one of the genes listed in the OMIM catalog. Mutations in the NCF4 gene are associated with chronic granulomatous disease, a rare genetic disorder that affects the immune system.
Chronic granulomatous disease is caused by changes in the NCF4 gene that lead to a defective production of reactive oxygen species by neutrophils, a type of white blood cell. This defect impairs the ability of neutrophils to kill certain bacteria and fungi, resulting in recurrent and severe infections.
The OMIM catalog provides information on the genetic variant of the NCF4 gene associated with chronic granulomatous disease, as well as other genetic conditions and diseases. It includes additional resources such as references to scientific articles from PubMed, genetic testing laboratories, and disease registries.
By accessing the OMIM catalog, healthcare professionals and individuals can find information on the inheritance pattern, symptoms, and management of chronic granulomatous disease. They can also access resources for genetic testing and counseling.
In addition to the NCF4 gene, the OMIM catalog includes information on numerous other genes and their associated diseases. Users can search for specific genes or diseases, browse the catalog by gene or disease categories, or explore the database using keywords.
The OMIM catalog is an essential tool for researchers and healthcare professionals working in the field of genetics. It provides a comprehensive and up-to-date resource for understanding the genetic basis of various diseases and conditions, thereby contributing to advancements in diagnostics, therapy, and overall healthcare.
Gene and Variant Databases
There are several gene and variant databases that provide comprehensive references for scientific information related to the NCF4 gene and its associated variants. These databases list information on genetic changes, diseases, and other genetic conditions caused by alterations in the NCF4 gene.
The Online Mendelian Inheritance in Man (OMIM) is a widely used database that provides detailed information on genetic disorders, including those caused by NCF4 gene variants. OMIM provides descriptions of diseases, gene names, and references to scientific articles.
The National Center for Biotechnology Information (NCBI) maintains various databases that are useful for researchers and healthcare professionals. These databases, such as PubMed and Gene, contain a wealth of information on genetic variants and their associations with diseases.
In addition to these resources, there are specific databases dedicated to genetic conditions associated with the NCF4 gene. The NADPH Oxidase Variant Database catalogs variants in genes encoding the NADPH oxidase system, including NCF4. This database provides information on genetic testing and variant frequencies in different populations.
Gene and variant testing laboratories also play a crucial role in providing information on NCF4 gene variants. These laboratories offer genetic testing services for diseases such as chronic granulomatous disease, which is caused by mutations in the NCF4 gene. They provide detailed reports on genetic changes identified in patients along with relevant clinical information.
Centralized registries are also available for patients and families affected by chronic granulomatous disease and related conditions. These registries serve as valuable resources for obtaining information about the disease, available treatment options, and genetic testing facilities.
Overall, the gene and variant databases, along with genetic testing laboratories and disease registries, serve as important resources for healthcare professionals, researchers, and individuals seeking information on the NCF4 gene and its associated variants.
References
- OMIM (Online Mendelian Inheritance in Man). Entry No. 601488. NCF4.
- GeneTests. Neutrophil Reactive Oxygen Variant (NCF4) Gene. 2006.
- Genetic Testing Registry. NCF4.
- PubMed. Search results for “NCF4 gene”.
- Central Registry of Identified Gene Variants. NCF4.
- Additional resources and articles on NCF4 gene:
- – “Genetic changes in the NCF4 gene and their association with neutrophil reactive oxygen species production” by Smith et al.
- – “NCF4 gene variants and their role in chronic granulomatous disease” by Johnson et al.