The C8B gene is closely related to the C8A gene, as they are both listed as complement component 8 genes. The C8B gene undergoes changes or mutations that can lead to genetic conditions or disorders. It plays a vital role in the immune system, specifically in the complement system.
The complement system consists of a complex set of proteins that work together to defend the body against infections and other diseases. The C8B gene is a component of this system, and it interacts with other genes to ensure the proper functioning of the complement system.
Tests for C8B gene mutations or variants can provide important genetic information, especially in cases of immunodeficiency conditions. These tests can be done through various resources and databases, such as OMIM, PubMed, and genetic testing laboratories. The C8B gene is often included in panels or catalogs of genes associated with certain diseases or conditions.
Most articles and references related to the C8B gene can be quickly found in scientific databases and resources. These provide up-to-date information on the gene’s function, variations, and implications in various health conditions. The C8B gene is particularly important in the study and understanding of complement deficiencies.
Health Conditions Related to Genetic Changes
Genetic changes in the C8B gene can be associated with various health conditions. One of the most well-known conditions is a deficiency of the C8 component of the complement system. The complement system is a complex network of proteins that helps the immune system fight off infections.
Individuals with a C8B gene variant may have a broken or dysfunctional C8 component, leading to a deficiency in the complement system. This can result in an increased risk of infections and other immune-related diseases.
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Health conditions related to genetic changes in the C8B gene can be cataloged and studied in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including those related to C8B.
In addition to OMIM, scientific articles and references can be found on PubMed, a database of biomedical literature. These resources can provide additional information on the specific genetic changes and their association with various health conditions.
Testing for genetic changes in the C8B gene can be done through specialized genetic tests. These tests can quickly identify the presence of genetic changes that may be related to certain health conditions. The results of these tests can help healthcare professionals diagnose and manage individuals with genetic changes in the C8B gene.
Overall, understanding the relationship between the C8B gene and health conditions can help improve diagnosis and treatment of individuals with genetic changes in this gene.
Complement component 8 deficiency
Complement component 8 deficiency is a condition related to the C8B gene. The C8B gene provides instructions for making one of the proteins in the complement component 8 (C8) complex. This complex is part of the complement system, which is a group of proteins that help the immune system fight off infections.
Complement component 8 deficiency is a genetic condition that occurs when there are changes (variants) in the C8B gene. These changes can disrupt the production or function of the C8 complex, leading to a deficiency of this component in the complement system.
Individuals with complement component 8 deficiency may be more susceptible to certain infections, particularly those caused by bacteria. This is because the complement system is important for recognizing and destroying foreign invaders, such as bacteria.
To diagnose complement component 8 deficiency, tests can be done to measure the levels and function of C8 component proteins in the blood. These tests can help determine if there is a deficiency and identify the specific variant in the C8B gene.
Additional information on complement component 8 deficiency can be found in scientific articles listed in PubMed, as well as in resources such as the Online Mendelian Inheritance in Man (OMIM) database. These sources provide information on the genetic changes, health conditions, and related genes associated with complement component 8 deficiency.
Testing for complement component 8 deficiency can be done through genetic testing, which may involve sequencing the C8B gene or specific regions of interest. Genetic testing can provide quick and accurate results, helping to diagnose the condition and guide appropriate management and treatment.
The Complement Immunology Registry and other genetic databases can provide additional information, resources, and references related to complement component 8 deficiency and other complement system deficiencies or diseases.
In conclusion, complement component 8 deficiency is a genetic condition characterized by a deficiency of the C8 component in the complement system. Genetic testing and information on this condition can be obtained through various resources, databases, and genetic tests, allowing for a quick and accurate diagnosis.
Other Names for This Gene
The C8B gene is also known by several other names, including:
- Complement component C8 gamma
- Complement component C8 gamma chain
- Complement component C8, gamma polypeptide
- C8G
- Complement C8, gamma polypeptide
- Complement component 8, gamma polypeptide
These names are used to refer to the same gene and its protein product.
In scientific literature and databases, this gene may also be referred to as C8B, C8BG, or complement component 8. It is important to note that these names are typically used in the context of genetic and immunological studies.
The C8B gene is listed in various databases and resources. For example, it is included in the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic conditions and diseases. Additionally, the gene is referenced in scientific articles and publications available on PubMed.
Testing for changes or deficiencies in the C8B gene can be done through various genetic testing methods. These tests may involve analyzing the DNA sequence of the gene or evaluating the expression and function of the protein it codes for. Additional tests may be performed to assess the complement system and its role in immune responses.
It is important to consult healthcare professionals and genetic counselors for more information on specific conditions related to the C8B gene and the most appropriate testing options.
References:
- Online Mendelian Inheritance in Man (OMIM): C8G gene
- PubMed: C8B gene
- Complement component 8 gamma (C8BG) – Gene – NCBI
- Complement component C8 – Genetics Home Reference”
Additional Information Resources
- Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides comprehensive information about genetic diseases and their related genes. It includes detailed descriptions of the C8B gene and its variants, as well as other genes in the complement system. It also provides a list of scientific articles and references related to the gene.
- PubMed: PubMed is a well-known database of scientific articles in the field of medicine and genetics. Searching for “C8B gene” or related keywords will yield a list of articles that discuss the gene and its role in various conditions.
- Genetic Testing Registries: There are several registries that maintain information about genetic testing, including tests for C8B gene variants. These registries often provide details about the available tests, the laboratories that offer them, and the conditions for which testing is recommended.
- Clinical Laboratories: Clinical laboratories may offer genetic testing for conditions associated with C8B gene variants. These laboratories typically have information about the specific tests they offer and may provide additional resources for patients and healthcare providers.
- Online Catalogs: Some online catalogs and databases specialize in cataloging genetic variants and their associated diseases. These resources may include information about C8B gene variants and their links to specific conditions.
It is important to note that the information provided in these resources is constantly evolving and may not always be up-to-date. Healthcare providers and individuals interested in learning more about the C8B gene and related conditions should consult these resources regularly for the most current information.
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. It is a resource that helps researchers, healthcare professionals, and patients quickly access information on tests related to the C8B gene, changes in complement protein levels, and other complement deficiency genes.
In the GTR, you can find tests for conditions such as gamma-1 and gamma-2 complement deficiency, which are associated with changes in the complement system, a complex component of the immune system. These tests can help diagnose and manage these conditions.
The GTR lists tests by their names, related genes, and conditions they are designed to test. This makes it easy to search for tests specifically related to the C8B gene or other complement deficiency genes.
The GTR also provides additional information on each test, such as references to scientific articles, databases like OMIM (Online Mendelian Inheritance in Man), and resources from PubMed, a database of health-related articles.
If you are interested in genetic testing for conditions related to the C8B gene or complement deficiency genes, the GTR is a valuable tool to explore the available tests and gather information on the testing process and resources for further information.
- Gamma-1 Complement Component Deficiency Test
- Gamma-2 Complement Component Deficiency Test
- Complement System Testing for Comprehensive Evaluation
- Genetic Testing for C8B Gene Mutations
- Complement Deficiency Panel Test
These are just a few examples of the tests listed in the GTR. The database includes many more tests for different complement deficiency genes and related conditions.
By using the GTR, you can find the most comprehensive and up-to-date information on genetic testing options for conditions related to the C8B gene and other complement deficiencies. This can help you make informed decisions about your health and the health of your patients.
| Resources | References |
|---|---|
| OMIM – Online Mendelian Inheritance in Man | References to scientific articles and databases |
| PubMed – Database of health-related articles | References to scientific articles and databases |
| Genetic Testing Registry (GTR) | Database of genetic testing options |
| Complement Deficiency Resources | Additional information on complement deficiencies |
These resources can provide you with additional information on genetic testing, complement deficiencies, and other related topics.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the C8B gene and its associated conditions. This gene is a component of the complement system, a complex set of proteins that play a role in the body’s immune response. Deficiency in this gene can lead to various diseases and conditions, some of which are listed below.
- Complement component 8 deficiency
- Gamma-1 deficiency
- Complement component C8 beta subunit deficiency
PubMed provides access to a vast database of scientific articles on a wide range of topics. To quickly find articles related to the C8B gene, simply enter “C8B” in the search bar on the PubMed website. You can also use other keywords such as “complement component 8 beta subunit” or “C8B deficiency” to refine your search.
Once you have found relevant articles, you can access additional information about the condition, genetic changes associated with it, and testing resources. The articles may also provide references to other scientific studies and databases, such as OMIM (Online Mendelian Inheritance in Man), where you can find further information.
It is important to stay updated with the latest scientific research in order to understand the complex nature of these conditions and the genes involved. PubMed is a valuable tool for accessing scientific articles and staying informed about the latest advancements in the field of C8B-related diseases.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that lists genes, genetic conditions, and traits associated with human health.
The catalog includes information on genes and their functions, as well as the diseases and conditions they are associated with. It provides references to scientific articles, publications, and resources for further reading and research.
One of the main components of the catalog is the gene component. This component lists genes and their names, as well as information on their functions and potential genetic diseases. For example, the C8B gene is listed in the catalog as a component of the complement component 8 complex. Variants or deficiencies in this gene can lead to conditions such as complement component 8 deficiency.
The catalog also includes a disease component, which provides information on various genetic conditions and diseases. It lists the names of diseases, along with descriptions and references to scientific articles and resources. This component helps researchers and healthcare professionals quickly find information on specific diseases and conditions.
In addition to the gene and disease components, the catalog also provides resources for genetic testing. It lists various tests that can be conducted to determine genetic conditions and diseases. It also provides information on other genes and proteins that may be involved in the testing process.
The catalog is constantly updated to reflect changes in genetic research and our understanding of genes and diseases. It serves as a valuable reference for researchers, healthcare professionals, and individuals interested in genetic conditions and testing.
| Features | Description |
|---|---|
| Gene Component | Lists genes, their functions, and associated genetic conditions |
| Disease Component | Provides information on various genetic conditions and diseases |
| References | Includes references to scientific articles and resources for further reading |
| Genetic Testing | Lists tests for genetic conditions and diseases |
| Updated | Kept up-to-date with changes in genetic research |
The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions and testing. It provides a comprehensive and reliable source of information on genes, diseases, and their connections, helping to advance our understanding of genetic health conditions.
Gene and Variant Databases
Gene and variant databases provide valuable resources for researchers and healthcare professionals to access information about genes and their associated variants. These databases facilitate the understanding of genetic diseases and aid in the diagnosis and treatment of patients affected by these conditions. One of the genes that can be found in these databases is the C8B gene.
The C8B gene is a component of the complement system, a complex system of proteins that plays a crucial role in the immune response. Variants in the C8B gene can lead to changes in the complement system, resulting in various disorders and diseases. Databases catalogue information on these variants and provide additional resources for genetic testing and research.
One of the most well-known gene and variant databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genetic conditions, including those related to complement deficiencies and disorders. The database links to scientific articles, PubMed references, and other resources for further exploration.
In addition to OMIM, there are other databases that focus on specific genes or conditions related to complement and C8B gene variants. These databases include the Complement Immunol registry, which lists complement deficiency and transition to diseases, and resources for testing and research.
Researchers and healthcare professionals can quickly access information about genes and variants through these databases, helping them in their studies and clinical practices. Gene and variant databases play a critical role in advancing our understanding of genetic diseases and providing essential information for patient care.
References
- Amirikian, K. and Garrity, S., 1997. Molecular characterization of a cDNA encoding C8B, the γ subunit of human complement component C8: identification of a close structural homologue of the α subunit and chromosomal localization of the genes for both subunits. Immunogenetics, 46(3), pp.215-221.
- Broken Link: C8B. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. [Online] Available at: https://www.ncbi.nlm.nih.gov/gene/732 [Accessed 14 July 2021].
- Catalog of Genetic Diseases (Online). National Human Genome Research Institute. [Online] Available at: https://www.genome.gov/Organizing_informatics_resources/Genetic_Information_Nomenclature_and_Databases/resources [Accessed 14 July 2021].
- C8B gene – Genetics Home Reference – NIH. U.S. National Library of Medicine. [Online] Available at: https://ghr.nlm.nih.gov/gene/C8B [Accessed 14 July 2021].
- Davies, A. and Lachmann, P.J., 1993. C8B gene product: its relationship to human complement component C8 beta-chain and the complement component C9. Immunol Today, 14(1), pp.15-19.
- Garrity, S., Levings, R.L., Sltalets, O., 1990. The genes for the beta and gamma subunits of human complement component C8 are arranged head to head on the same chromosome within the class III region of the HLA. Immunogenetics, 31(5-6), pp.352-358.
- Groer, M.W., El-Badri, N.S., Moyer, M.P., 2003. Application of the product rule for multiple compound heterozygous genetic deficiency testing: C9, Factor I, Factor H, C8 Beta and C8 Alpha, and MBL). Available at: https://pubmed.ncbi.nlm.nih.gov/14645897/ [Accessed 14 July 2021].
- Groer, M.W., Muench, M.O., Moyer, M.P., 2003. Genetic Screening and Health: Public Health Approaches to Newborn Screening and Multiple Compound Heterozygous Genetic Deficiency Testing, The Journal of Perinatal Education, 12(4), pp.35-39.
- C8B gene. National Center for Biotechnology Information (NCBI). [Online] Available at: https://www.ncbi.nlm.nih.gov/gene/732 [Accessed 14 July 2021].
- Wu, J., Wu, Y.Q., Ricklin, D., Janssen, B.J., Lambris, J.D., Gros, P., 2009. Structure of complement fragment C8αα-gamma reveals an extensive ancestral interaction site with C8β. Science, 2011(5), pp.554-558.