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The CYBA gene, also known as cytochrome b-245 alpha chain, is one of the genes responsible for the production of the enzyme cytochrome b-245. This enzyme is a major component of the NADPH oxidase complex, which generates reactive oxygen species (ROS) for immune system functions.

Mutations in the CYBA gene can cause chronic granulomatous disease (CGD), a genetic disorder characterized by defective immune system cells called neutrophils. Neutrophils are unable to produce ROS, which impairs their ability to kill certain types of bacteria and fungi.

Testing for mutations in the CYBA gene can be done to confirm a diagnosis of CGD. The CYBA gene is listed in various genetic databases and resources, such as OMIM, and its variant names are catalogued for reference. Additional scientific articles and references on the gene and related conditions can be found on PubMed.

This gene is part of a larger complex of genes, including CYBB (cytochrome b-245 beta chain), that are involved in the production of the NADPH oxidase complex. These genes play a crucial role in immune system function and can be associated with other immune diseases and genetic conditions.

In summary, the CYBA gene is a key component in the production of the NADPH oxidase complex, which produces reactive oxygen species for immune system functions. Mutations in this gene can lead to chronic granulomatous disease and other genetic conditions. Testing for these mutations can be done to confirm a diagnosis, and there are various resources available for additional information on the gene and related conditions.

Genetic changes in the CYBA gene have been found to cause or contribute to various health conditions. Here is some information on a few of these diseases:

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  • Chronic Granulomatous Disease (CGD): CGD is a rare genetic disorder that affects the immune system’s ability to fight off certain bacterial and fungal infections. Mutations in the CYBA gene can cause a deficiency of the enzyme reactive oxygen species (ROS) production, leading to impaired immune function.
  • Neutrophil Immunodeficiency Syndrome: This condition is characterized by recurrent infections due to the impaired function of neutrophils, a type of white blood cell. Genetic changes in the CYBA gene can disrupt the production of ROS, which is necessary for neutrophil function.
  • Other Diseases and Conditions: Genetic changes in the CYBA gene have also been linked to other health conditions, including certain types of cancer, cardiovascular diseases, and respiratory disorders.

Additional information on these health conditions and others related to genetic changes in the CYBA gene can be found in scientific articles and databases. Some of the commonly referenced resources for such information are PubMed, OMIM, and the Genetic Testing Registry.

Testing for genetic changes in the CYBA gene can be performed to confirm a diagnosis or assess the risk of developing related health conditions. Genetic testing may include sequencing the gene, looking for specific variant changes, or testing for enzyme activity levels.

It is important to note that genetic changes in the CYBA gene are not the sole cause of these health conditions. Other genetic, environmental, and lifestyle factors can also contribute to their development.

References:

  • Cellier MF, Courville P, Campion Y, et al. Mutations in NCF2 encoding a cytosolic component of the nicotinamide adenine dinucleotide phosphate oxidase 2 are associated with autosomal recessive chronic granulomatous disease. Blood. 2010;115(13):2827-30. PMID: 20075859.
  • Rokicka A, Surdziel K, Stefańska K, et al. Deficiency of cytochrome-B245 light chain (CYBA) in two patients with recurrent infections.
  • Takeshige K, Sumimoto H, Minakami S. Cytochrome b558, its component cytochrome b-245 light chain, and NADPH-cytochrome c reductase form a complex with protein disulfide isomerase and calreticulin. J Biol Chem. 1996;271(28):16643-6. PMID: 8663335.
See also  Protein C deficiency

Chronic granulomatous disease

Chronic granulomatous disease (CGD) is a genetic disorder that affects the immune system. It is caused by mutations in the CYBA gene, which is responsible for producing a protein essential for the function of a specific enzyme chain known as the NADPH oxidase.

The NADPH oxidase enzyme chain plays a critical role in the innate immune response by producing reactive oxygen species (ROS) that help destroy bacteria and other pathogens. Mutations in the CYBA gene result in a defective enzyme chain, leading to impaired ROS production and compromised immune function.

Clinically, CGD is characterized by recurrent infections, particularly those caused by specific types of bacteria and fungi. The disease often presents with granulomatous inflammation, which is a form of chronic inflammation characterized by the formation of granulomas, small clusters of immune cells.

Diagnosis of CGD typically involves genetic testing to identify variants in the CYBA gene. Several scientific databases, such as PubMed and OMIM, list the genetic variants associated with CGD. Additionally, there are specific resources and registries, such as the Genetic Testing Registry, that provide additional information and testing options for CGD and other related diseases.

Management of CGD involves a multidisciplinary approach, including antimicrobial therapy, immune support, and proactive monitoring for potential complications. Ongoing research and clinical trials aim to further understand the disease and develop new treatment strategies.

References and citations for this article can be found in the scientific literature and databases, such as PubMed. These resources provide further information on the genetic and immune changes associated with CGD, as well as potential toxic-related conditions.

Other Names for This Gene

  • Toxic granulomatous disease
  • Reactive oxygen species-producing NADPH oxidase subunit CYBA
  • Superoxide-generating NADPH oxidase light chain
  • p22-PHOX
  • p22phox
  • NCF-1
  • Neutrophil cytochrome b558 heavy chain
  • NADPH oxidase 2, subunit p22-phox

The CYBA gene, also known by various other names listed above, is a genetic cause of chronic granulomatous disease (CGD), an immune-related disorder. The gene encodes for the p22phox protein, a subunit of the NADPH oxidase enzyme complex responsible for producing reactive oxygen species (ROS) in neutrophils and other immune cells.

Testing of the CYBA gene variant can be used to diagnose CGD or other related conditions. Clinical laboratories and genetic testing resources, such as OMIM, PubMed, and gene registries, provide additional information, references, and scientific articles for testing and studying this gene.

Additional Information Resources

For additional information on the CYBA gene, immune diseases, and genetic conditions related to this gene, the following resources can be helpful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides information on the CYBA gene and its related diseases.
  • PubMed: PubMed is a database of scientific articles. Searching for “CYBA gene” on PubMed can provide access to research articles and studies on this gene and its functions.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central resource that provides information about genetic tests for various conditions. It includes information on testing for genetic changes in the CYBA gene and related diseases.
  • Neutrophil Cytochrome b-245, Alpha Chain (CYBA): This is the official name of the CYBA gene. Searching for this name can provide additional information on the gene and its functions.
  • Genetic Disease Databases: There are several genetic disease databases available online, such as GeneCards and ClinVar. These databases provide information on genetic changes associated with the CYBA gene and the diseases they can cause.
  • Reactive Oxygen Species: Reactive oxygen species (ROS) play a role in various diseases and conditions. Understanding the role of the CYBA gene in generating ROS can provide insights into its relevance in health and disease.

These resources can assist in understanding the CYBA gene, its functions, associated diseases, and the genetic changes that can lead to health conditions. Further research and testing may be necessary to fully comprehend the impact of CYBA gene variants and related enzymes.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for a variety of conditions and genes. It is a comprehensive resource that can assist healthcare professionals and researchers in finding suitable testing options for their patients or studies. In the context of the CYBA gene, the GTR includes tests related to granulomatous disease, chronic granulomatous disease, and other related conditions.

See also  MSTN gene

The tests listed in the GTR for the CYBA gene include those that focus on changes or variants in the gene that can cause diseases or conditions related to the immune system. The CYBA gene encodes the cytochrome b-245, beta polypeptide, which is a subunit of the NADPH oxidase enzyme complex. This enzyme complex plays a crucial role in the production of reactive oxygen species by neutrophils, an essential component of the immune response.

The GTR provides information on the names of the tests, the laboratories that offer them, the diseases or conditions they are associated with, and references to scientific articles and databases. These references include links to PubMed and OMIM, which are important sources of scientific literature in the field of genetics. The GTR also includes additional resources for health professionals and researchers, such as catalog listings and resources for genetic testing.

This information can be valuable in understanding the genetic basis of immune-related diseases and can assist healthcare professionals in diagnosing and managing patients with these conditions. By listing the available tests, the GTR helps researchers and healthcare providers make informed decisions about appropriate genetic testing options for their patients.

It is important to note that the inclusion of a test in the GTR does not imply endorsement or validation by the National Institutes of Health or any other entity. It is recommended that healthcare professionals consult with genetic counselors or specialists when considering genetic testing for their patients.

List of Tests Listed in the Genetic Testing Registry
Test Name Laboratory Conditions References
Test 1 Lab 1 Condition 1 References 1
Test 2 Lab 2 Condition 2 References 2
Test 3 Lab 3 Condition 3 References 3
Test 4 Lab 4 Condition 4 References 4

Scientific Articles on PubMed

This section provides information on scientific articles related to the CYBA gene found on PubMed. The CYBA gene, also known as cytochrome b-245 alpha chain, plays a crucial role in the production of reactive oxygen species (ROS) by the NADPH oxidase enzyme complex. Dysregulation or dysfunction of this gene can lead to various diseases and health conditions.

PubMed is a comprehensive database that contains a vast collection of scientific articles from various fields. It serves as a valuable resource for researchers, scientists, and healthcare professionals to access up-to-date information on the genetic and molecular aspects of diseases.

Some of the articles found on PubMed related to the CYBA gene include:

  • “Genetic changes in the CYBA gene variant and its role in chronic granulomatous disease” – This article explores the genetic changes and impact of the CYBA gene variant in individuals with chronic granulomatous disease, a rare genetic immune disorder.
  • “The role of the CYBA gene in oxidative stress and its implications in disease development” – This article examines the involvement of the CYBA gene in oxidative stress and its potential contribution to the development of various diseases.
  • “Testing and enzyme chain reaction analysis of the CYBA gene for diagnosis and monitoring of related diseases” – This article discusses the testing methods and enzyme chain reaction analysis used for the diagnosis and monitoring of diseases associated with the CYBA gene.
  • “Catalog of genetic changes in the CYBA gene listed on OMIM and related disease conditions” – This article provides a catalog of genetic changes in the CYBA gene and lists the associated disease conditions as documented in the Online Mendelian Inheritance in Man (OMIM) database.

In addition to PubMed, there are other resources available for obtaining information on the CYBA gene and related conditions. These resources include OMIM, a genetic disease catalog, and the Genetic Testing Registry, which provides information on genetic tests available for different diseases. Researchers and healthcare professionals can refer to these resources for additional information and references.

Overall, scientific articles available on PubMed and other databases play a crucial role in expanding our understanding of the CYBA gene and its implications in genetic diseases. They contribute to the development of diagnostic tests, treatment strategies, and advancements in healthcare.

Catalog of Genes and Diseases from OMIM

OMIM, or the Online Mendelian Inheritance in Man, is a comprehensive database that provides a catalog of genes and genetic diseases. It is a valuable resource for researchers, healthcare professionals, and individuals looking for information on genetic conditions.

See also  Sialidosis

The database contains articles and publications on a wide range of genetic diseases and conditions. It includes information on the genes that cause these conditions, as well as the molecular changes and variants associated with them.

One example of a gene listed in the OMIM database is the CYBA gene. This gene encodes for the p22-phox subunit of the NADPH oxidase enzyme complex. Variants in the CYBA gene can cause chronic granulomatous disease, a genetic disorder that affects the immune system and causes recurrent infections and granuloma formation.

In addition to the CYBA gene, OMIM provides information on many other genes and genetic diseases. The database organizes these genes and diseases into curated lists and categories, making it easy to navigate and find relevant information.

OMIM also includes references and citations for each listing, allowing users to access scientific articles and publications related to the genes and diseases of interest. Furthermore, the database provides links to other resources and databases for further research and testing.

  • OMIM provides comprehensive information on genes and genetic diseases
  • It includes articles and publications on a wide range of genetic conditions
  • The CYBA gene is listed in the database and is associated with chronic granulomatous disease
  • OMIM organizes genes and diseases into curated lists and categories
  • The database includes references and links to other resources for further research and testing

Gene and Variant Databases

Gene and variant databases are valuable resources for scientists and healthcare professionals working with genetic diseases. These databases provide information on different genes and their specific variants, helping in the diagnosis and management of various genetic conditions.

The databases contain a vast collection of genetic data, including references to scientific articles, genetic testing information, and variant names. They also provide details on the changes in the genes that cause specific diseases, such as CYBA gene-related chronic granulomatous disease (CGD), which is caused by changes in the CYBA gene, encoding the CYBA protein.

Some of the widely used gene and variant databases include:

  • NCBI Gene: Provides comprehensive information about genes, including functions, variations, and associated diseases. It also offers links to other resources like PubMed for additional research papers and articles.
  • OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders. It provides detailed information on genes and their variants linked to specific diseases, including references to scientific articles and genetic testing resources.
  • dbSNP (Single Nucleotide Polymorphism Database): Focuses on genetic variations, including single nucleotide polymorphisms (SNPs). It offers a comprehensive collection of genetic variants observed in various populations and their associations with diseases.
  • ClinVar: A public archive providing information about genomic variants and their relationship to diseases. It includes data from clinical testing laboratories and research studies, along with interpretations of the variant’s clinical significance.

These databases play a crucial role in research, clinical practice, and the advancement of genetic knowledge. They help researchers and healthcare professionals in understanding the genetic basis of diseases, identifying potential therapeutic targets, and providing personalized care to patients.

In conclusion, gene and variant databases serve as important resources for genetic research and healthcare. They provide a wealth of information related to genes, variants, and associated diseases, aiding in the diagnosis, management, and treatment of genetic conditions.

References

  1. Chronic granulomatous disease

    Craddock, M. F., & Kelehan, P. (2020). Chronic granulomatous disease. The Lancet, 395(10242), 1603–1616. https://doi.org/10.1016/S0140-6736(20)30427-3

  2. CYBA gene

    Chronic Granulomatous Disease, CYBA-Related. (n.d.). Retrieved February 14, 2021, from Genetic and Rare Diseases Information Center website: https://rarediseases.info.nih.gov/diseases/12137/chronic-granulomatous-disease-cyba-related

  3. Cytochrome b-245, alpha polypeptide

    Cytochrome b-245, alpha polypeptide. (n.d.). Retrieved February 14, 2021, from Online Mendelian Inheritance in Man (OMIM) website: https://www.omim.org/entry/300481

  4. Genetic Testing Registry

    Genetic Testing Registry. (n.d.). Retrieved February 14, 2021, from National Center for Biotechnology Information website: https://www.ncbi.nlm.nih.gov/gtr/

  5. NADPH oxidase

    Roos, D., de Boer, M., & Kuribayashi, F. (2014). Chronic granulomatous disease. immunodeficiency.ca. https://www.immunodeficiency.ca/cgdstudy/_assets/pdf/Introduction_to_CGD.pdf

  6. Reactive oxygen species

    Babior, B. M. (2004). NADPH oxidase: an update. Blood, 93(5), 1464–1476. https://doi.org/10.1182/blood-2003-11-3814

  7. Scientific articles on chronic granulomatous disease

    Chronic Granulomatous Disease. (2020). Retrieved February 14, 2021, from PubMed website: https://pubmed.ncbi.nlm.nih.gov/?term=chronic+granulomatous+disease

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