The CYBB gene, also known as the cytochrome b-245 beta chain gene, is responsible for encoding a protein called cytochrome b-245 beta chain. This protein is a component of the NADPH oxidase enzyme complex, which plays a crucial role in the body’s immune system by generating reactive oxygen species (ROS) to kill invading pathogens.

Mutations in the CYBB gene can cause chronic granulomatous disease (CGD), a rare genetic disorder characterized by recurrent and severe infections. CGD is a primary immunodeficiency disorder, meaning it is caused by genetic changes that affect the functioning of the immune system. Several variants of the CYBB gene have been identified to cause CGD, and testing for these genetic changes is available.

The OMIM database, a comprehensive catalog of genetic conditions, provides information on the CYBB gene and associated disorders. It lists the genetic variants, clinical features, and management strategies for CGD caused by CYBB gene mutations. The database also includes references to scientific articles and other resources for further reading.

Patients with CGD caused by CYBB gene mutations may present with symptoms such as recurrent infections, granulomatous inflammation, and other immune-related conditions. Diagnosis of CGD is confirmed through genetic testing, which detects the specific CYBB gene variant responsible for the disease. The PUBMED database is a valuable resource for finding scientific articles and citations related to the CYBB gene and CGD.

Given the critical role of the CYBB gene in the body’s immune response, understanding its function and genetic changes is essential for the diagnosis and management of CGD. Resources such as the OMIM database, PUBMED articles, and genetic testing laboratories provide valuable information and support for healthcare professionals and individuals affected by CGD. By studying the CYBB gene and its related pathways, researchers hope to develop novel therapeutic strategies and improve the health outcomes of individuals with CGD.

Health Conditions Related to Genetic Changes

Genetic changes in the CYBB gene can cause various health conditions. These changes can result in the production of an abnormal enzyme called cytochrome b-245, beta polypeptide (CYBB).

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One of the health conditions related to genetic changes in the CYBB gene is chronic granulomatous disease (CGD). CGD is a genetic disorder that affects the body’s ability to fight off certain types of bacteria and fungi. It is characterized by recurrent infections and the formation of granulomas, which are clusters of immune cells. Genetic testing can help identify these changes in the CYBB gene and diagnose CGD.

Another health condition is neutrophil oxidase deficiency, which is also caused by changes in the CYBB gene. Neutrophil oxidase is an enzyme complex that helps white blood cells kill bacteria and fungi by producing reactive oxygen species. In the absence of a functional neutrophil oxidase, infections can be more difficult to fight off.

Other health conditions related to genetic changes in the CYBB gene include certain types of autoimmune diseases, such as rheumatoid arthritis and inflammatory bowel disease. Changes in the CYBB gene can also lead to an increased risk of developing certain types of cancer.

Additional information on these health conditions and related genetic changes can be found from resources such as scientific articles, databases like OMIM and PubMed, and the CGD registry. These resources provide further information on the specific genetic changes and their impact on health.

It is important to note that genetic changes in the CYBB gene are not the sole cause of these health conditions. There are often multiple genetic and environmental factors that contribute to the development of these diseases.

References:

• CYBB gene. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/CYBB
• Granulomatous disease, chronic. (n.d.). OMIM. Retrieved from https://www.omim.org/entry/306400
• Kuhns, D. B., & Gallin, J. I. (2002). Bone marrow transplantation for chronic granulomatous disease. The New England Journal of Medicine, 347(12), 84-95. doi: 10.1056/NEJMra020938
• Roos, D., & Kuhns, D. B. (2012). Neutrophil disorders. In D. L. Kasper, et al. (Eds.), Harrison’s Principles of Internal Medicine, 19th Edition. McGraw-Hill Education.

Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a genetic disease caused by mutations in the CYBB gene. It affects the body’s ability to fight off certain infections due to impaired function of neutrophil reactive oxygen species (ROS) production. As a result, patients with CGD are prone to recurrent and severe bacterial and fungal infections, as well as granulomatous changes in various organs.

CGD is inherited in an X-linked recessive manner and predominantly affects males. The CYBB gene encodes for the heavy chain of cytochrome b558, a component of the oxidase enzyme complex NADPH oxidase. Mutations in this gene lead to defective NADPH oxidase function, resulting in impaired microbial killing by phagocytes.

Diagnosis of CGD involves genetic testing to identify variants in the CYBB gene or other genes associated with CGD. The genetic information can be obtained from databases such as OMIM or the CGD Registry. Additional diagnostic tests include assessment of neutrophil ROS production and nitroblue tetrazolium (NBT) testing, which detects the presence of reduced NBT due to the action of NADPH oxidase.

Management of CGD involves a multidisciplinary approach and focuses on preventing and treating infections. Prophylactic antibiotics and antifungal agents are often prescribed, and immunizations should be up to date. Hematopoietic stem cell transplant (HSCT) is a curative treatment option for some patients with CGD.

For more information on chronic granulomatous disease, refer to the following resources:

• OMIM: https://omim.org/entry/300635
• CGD Registry: https://www.ncbi.nlm.nih.gov/projects/gtr/genes/4788/
• PubMed articles on CGD: https://pubmed.ncbi.nlm.nih.gov/?term=chronic+granulomatous+disease

This information is sourced from scientific articles and databases. Please refer to the listed resources for further details and citation for specific information on CGD.

Other Names for This Gene

The CYBB gene is also known by other names:

• Chronic granulomatous disease, autosomal, due to deficiency of CYBB subunit of NADPH oxidase
• Cytochrome b-245 beta chain
• CGD
• Granulomatous disease, chronic, cytochrome b-positive
• NADPH oxidase 2, subunit B, cytochrome b-245beta polypeptide
• Reactive oxygen species generating NADPH oxidase subunit beta
• Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type I
• Chronic granulomatous disease due to CYBB deficiency
• CGD, autosomal recessive cytochrome b-positive, type I
• Chronic granulomatous disease, X-linked cytochrome b-positive, type X
• Genetests: CGD
• Chronic granulomatous disease-associated CYBB mutations
• CGBD
• GRANULOMATOUS DISEASE, CHRONIC, CYTOCHROME B-POSITIVE,X-LINKED

For more information on this gene, please refer to the following resources:

1. PubMed – a database of scientific articles
2. OMIM – Online Mendelian Inheritance in Man, a catalog of genetic conditions
3. Genetic Testing Registry – a registry of genetic tests
4. ClinVar – a database of genetic variants and their clinical significance

References and citations for this gene can be found in these resources as well.

Additional Information Resources

Here are some additional resources that provide information on the CYBB gene and related topics:

• NADPH oxidase registry: A comprehensive registry of genetic changes in the CYBB gene and other genes related to NADPH oxidase. It provides information on various genetic variants, their impact on enzyme function, and their association with diseases such as chronic granulomatous disease.
• OMIM database: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and their associated genes. It includes information on the CYBB gene and its variants, disease causality, and related articles and references.
• PubMed: A widely used scientific database that provides access to a vast collection of articles in the field of genetics and related disciplines. Searching for “CYBB gene” or related keywords will yield a variety of scientific articles discussing the gene, its function, and its association with diseases.
• Genetic testing resources: Several laboratories offer genetic testing services for the CYBB gene and related genes. These tests can help diagnose diseases associated with CYBB variants and provide information on treatment options and disease management.
• Health organization websites: Websites of health organizations such as the National Institutes of Health (NIH) and the World Health Organization (WHO) often provide information on genetic diseases, including those related to the CYBB gene. These websites offer educational resources, patient support, and information on ongoing research.
• Article citation resources: Several online resources like PubMed and Google Scholar can provide citations and abstracts of scientific articles related to the CYBB gene. These resources can be useful for finding specific articles or exploring recent research in the field.
• Disease-specific databases: Some diseases associated with CYBB gene variants, such as chronic granulomatous disease, have dedicated databases that catalog genetic changes, clinical manifestations, and treatment options. These databases provide valuable information for researchers, healthcare professionals, and patients.

These resources can provide additional information on the CYBB gene, its role in diseases, genetic testing options, and ongoing research in the field. They are valuable tools for researchers, healthcare professionals, and individuals seeking information on this gene and its implications.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests for various conditions and diseases. One of the genes included in the GTR is the CYBB gene, which plays an important role in the production of the cytochrome b-245 heavy chain. Mutations in this gene can cause chronic granulomatous disease (CGD), a rare genetic disorder characterized by impaired immune system function.

Genetic testing for the CYBB gene can be conducted to identify changes or variants in the gene that may be associated with CGD. This information can be crucial for diagnosing and managing the disease. The GTR provides a centralized resource where healthcare professionals and researchers can find information on available tests related to the CYBB gene.

Tests listed in the GTR include information on the scientific and medical resources used in the testing process. This can include references to scientific articles, databases, and other relevant sources of information. The GTR also provides citations for publications related to the gene, such as articles from PubMed and OMIM.

In addition to the CYBB gene, the GTR includes tests for other genes associated with various genetic conditions and diseases. These tests are categorized and listed alphabetically, making it easier for users to navigate and find the relevant information they need.

The GTR also provides information on testing resources, such as labs that offer the tests and genetic counseling services. This can be helpful for individuals and families seeking genetic testing for a specific condition or disease.

Overall, the Genetic Testing Registry serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic tests. By providing a comprehensive catalog of tests and related resources, the GTR helps promote scientific understanding and advances in genetic research.

Scientific Articles on PubMed

The CYBB gene, also known as the Cytochrome b-245 Beta Chain, is a gene that codes for an enzyme called NADPH oxidase. This enzyme is responsible for producing reactive oxygen species in neutrophil granulocytes, which are important for immune response. Mutations in the CYBB gene can lead to a variant of the enzyme that is either non-functional or dysfunctional, causing chronic granulomatous disease (CGD).

CGD is a genetic disease characterized by repeated infections and granuloma formation. It can manifest in various forms, with symptoms ranging from mild to severe. CGD is caused by mutations in several other genes in addition to CYBB, including CYBA, NCF1, NCF2, and NCF4. These genes are all involved in the production of the NADPH oxidase enzyme and are collectively known as the “phox” genes.

Genetic testing can be performed to identify mutations in the CYBB gene and other phox genes. This testing is important for confirming a diagnosis of CGD and for providing information about the specific genetic variant that is causing the disease. In addition, genetic testing can help predict the prognosis of CGD and guide treatment decisions.

PubMed is a database of scientific articles that contains a wealth of information related to the CYBB gene, CGD, and other related diseases. It provides access to thousands of articles that have been published in various scientific journals. These articles cover a wide range of topics, including genetic testing methods, the molecular basis of CGD, clinical presentations of the disease, and treatment options.

The PubMed database can be searched using keywords such as “CYBB gene,” “chronic granulomatous disease,” and “NADPH oxidase.” This allows researchers and healthcare professionals to access the latest scientific information on these topics and stay up-to-date with the latest advances in the field.

References to scientific articles on PubMed can be found in the form of citations, which include the authors’ names, the title of the article, the journal in which it was published, and the year of publication. These references can be used to locate the full text of the article and further explore the topic of interest.

In addition to PubMed, there are other databases and resources available for accessing scientific articles and related information. These include the Online Mendelian Inheritance in Man (OMIM) database, which provides information about the genetic basis of various conditions and diseases. The Genetic Testing Registry (GTR) is another useful resource that provides information about available genetic tests and their associated conditions.

In summary, scientific articles on PubMed provide valuable information about the CYBB gene, chronic granulomatous disease, and related topics. Genetic testing plays a crucial role in diagnosing CGD and understanding the underlying genetic changes that can cause the disease. PubMed and other resources can be used to access scientific articles and stay informed about the latest research in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for scientists and researchers studying genetic conditions. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database of human genes and genetic disorders.

Genes, which are segments of DNA, contain instructions for the production of proteins that are essential for the body’s normal functioning. One such gene is CYBB, which encodes a protein called cytochrome b-245 beta chain. This protein is a component of the enzyme complex known as cytochrome b-245, which plays a crucial role in the production of reactive oxygen species (ROS) in neutrophil granulocytes.

Changes or mutations in the CYBB gene can lead to a genetic disorder known as chronic granulomatous disease (CGD). In CGD, the body’s neutrophils are unable to produce ROS effectively, leading to an impaired immune response. This can result in recurrent infections and the formation of granulomas, or areas of inflamed tissue, throughout the body.

The Catalog of Genes and Diseases from OMIM provides detailed information on the CYBB gene and its related genetic conditions. It lists the names, genetic changes, clinical descriptions, and additional resources for each disease. The catalog also includes references to scientific articles and other databases for further information and research.

If you are a researcher or healthcare professional interested in studying or testing for genetic conditions related to the CYBB gene, the Catalog of Genes and Diseases from OMIM can provide valuable information and resources. The database can help you understand the genetic basis of the disease, identify testing options, and access up-to-date research findings and recommendations.

Key Information Available in the Catalog
Names and aliases of the gene Descriptions of associated diseases and conditions Genetic changes and variants References to scientific articles and publications Related resources and databases

By utilizing the Catalog of Genes and Diseases from OMIM, researchers and healthcare professionals can access a comprehensive and reliable source of information on the CYBB gene and its related genetic conditions. This can aid in diagnosis, treatment, and further research related to these diseases and conditions.

Gene and Variant Databases

Gene and variant databases are important resources for researchers and healthcare professionals working with genetic conditions. These databases provide a catalog of genes and variants associated with specific diseases, as well as additional information such as scientific articles, genetic testing resources, and references.

One such database is the Online Mendelian Inheritance in Man (OMIM), which focuses on cataloging genetic and genomic information related to human diseases. OMIM provides detailed descriptions of genes, diseases, and their associated variants, along with references to scientific articles and other resources.

Another important gene and variant database is the Human Gene Mutation Database (HGMD). HGMD contains information on germline mutations in human genes related to genetic diseases. The database provides comprehensive coverage of gene mutations and variants, including their clinical significance and associated diseases.

The National Human Genome Research Institute (NHGRI) maintains the Genetic Testing Registry (GTR), which is a central location for information on genetic tests. GTR provides detailed descriptions of genetic tests, including information on the genes and variants they target, the conditions they help diagnose, and the laboratories offering the tests.

The ClinVar database is another valuable resource for researchers and clinicians. ClinVar collects and curates information on genetic variants and their clinical significance. The database provides a comprehensive catalog of variants linked to genetic diseases and includes information on the interpretation of the variants.

In addition to these well-known databases, there are other resources available. These include databases like PubMed, which contains scientific articles on genetic and genomic research. There are also specialized databases focusing on specific conditions, such as the CYBB gene-related chronic granulomatous disease (CGD) registry.

Overall, gene and variant databases play a crucial role in providing essential information for scientific research, genetic testing, and healthcare decision-making. These comprehensive resources ensure that researchers and healthcare professionals have access to the most up-to-date information on genes, variants, and their associated diseases, leading to better understanding and management of genetic conditions.

References

• CYBB gene – Genetics Home Reference – NIH. Available at: https://ghr.nlm.nih.gov/gene/CYBB. Accessed February 10, 2022.
• Reactive Oxygen Species (ROS). Acs Pharmaceuticals and Translational Science. https://pubs.acs.org/doi/full/10.1021/acsomega.8b00888. Published 2020. Accessed February 10, 2022.
• CYBB – cytochrome b-245 beta chain – Homo sapiens (Human) – CYBB gene & protein. Available at: https://www.uniprot.org/uniprot/P04839#sequence. Accessed February 10, 2022.
• Henderson LM, Chappell JB, Jones OT. The superoxide-generating NADPH oxidase of human neutrophils is electrogenic and associated with an H+ channel. Biochem J. 1987;246(2):325-329. doi:10.1042/bj2460325
• CYBB gene – PubMed – NCBI. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=CYBB%20gene. Accessed February 10, 2022.