The MBL2 gene, also known as the Mannose-Binding Lectin 2 gene, is a genetic variant that plays a crucial role in the immune system. This gene provides important information for the health of individuals and is linked to various conditions and diseases.
MBL2 deficiency, which occurs when there are changes or mutations in the MBL2 gene, is associated with an increased risk of recurrent infections, particularly in children. This genetic deficiency affects the function of MBL, a protein that plays a key role in the recognition and elimination of pathogens.
For scientific and genetic research on MBL2, there are resources available such as PubMed, OMIM, and other genetic databases. These provide additional information on the gene, its variant alleles, and related articles. The MBL2 gene is listed in the catalog of genes related to diseases and conditions, including genetic deficiencies.
Genetic testing on the MBL2 gene can be performed to identify any changes or mutations that may be present. This testing can provide valuable information for individuals and their healthcare providers, helping them make informed decisions regarding their health and treatment options.
In conclusion, the MBL2 gene is an important genetic variant that affects the immune system and is associated with various conditions and diseases. By providing resources and testing options, the MBL2 gene plays a significant role in genetic research and healthcare.
Health Conditions Related to Genetic Changes
Mannose-binding lectin (MBL2) deficiency is a genetic condition that affects the immune system. It is caused by mutations in the MBL2 gene. The MBL2 gene provides instructions for making a protein called mannose-binding lectin (MBL), which plays a role in the body’s defense against infection.
In individuals with MBL2 deficiency, the MBL protein is not produced in sufficient amounts or does not function properly. This can lead to an increased susceptibility to infections, particularly those caused by bacteria, viruses, and fungi.
MBL2 deficiency is associated with an increased risk of developing recurrent respiratory infections, such as pneumonia and bronchitis, as well as bacterial infections in other parts of the body. It has also been linked to an increased susceptibility to certain viral infections, including influenza and hepatitis C.
Health conditions related to genetic changes in the MBL2 gene can vary widely in severity and presentation. Some individuals with MBL2 deficiency may have few symptoms and only experience mild infections. Others may have more frequent and severe infections that require medical intervention.
Testing for MBL2 deficiency can be done through genetic testing, which analyzes an individual’s DNA for changes in the MBL2 gene. This testing can help confirm a diagnosis of MBL2 deficiency and guide treatment decisions.
Additional tests may be recommended to evaluate the immune system and assess the risk of infections in individuals with MBL2 deficiency. These tests may include blood tests to measure antibody levels and evaluate immune cell function.
Resources such as the Online Mendelian Inheritance in Man (OMIM) and scientific literature databases like PubMed provide articles and references on the MBL2 gene, its variants, and related health conditions. The OMIM catalog lists the names of genes and genetic conditions, along with information on the genetic changes associated with these conditions.
In cases where a specific genetic variant in the MBL2 gene is identified, genetic counseling may be recommended for affected individuals and their families. Genetic counseling can provide information on inheritance patterns, recurrence risks, and available treatment options.
Overall, understanding the genetic changes in the MBL2 gene and their association with health conditions can help healthcare professionals provide appropriate care and management for individuals with MBL2 deficiency.
Mannose-binding lectin deficiency
Mannose-binding lectin deficiency is a genetic condition related to mutations in the MBL2 gene. The MBL2 gene provides instructions for making a protein called mannose-binding lectin (MBL). This protein plays a role in the immune system by recognizing and binding to certain carbohydrates on the surface of bacteria, viruses, and other microorganisms, which helps to activate the immune response to eliminate these pathogens.
Individuals with mannose-binding lectin deficiency have lower levels of functional MBL, which can result in an increased susceptibility to recurrent and severe infections. This condition is listed in various genetic databases and resources, such as the Online Mendelian Inheritance in Man (OMIM), PubMed, and other scientific articles.
Testing for MBL deficiency can be done through genetic tests that look for changes or mutations in the MBL2 gene. These tests can help determine the likelihood of developing certain diseases or conditions associated with low MBL levels.
Further information and related references on mannose-binding lectin deficiency and MBL2 gene mutations can be found in the OMIM registry, PubMed, and other scientific articles. Additional information on genetic testing for this condition can be obtained from healthcare providers, genetic testing laboratories, or genetic counseling services.
It is important to note that mannose-binding lectin deficiency is just one of the many lectin-related diseases and conditions cataloged in the scientific literature and various resources. There may be other genetic changes or mutations in other genes that can also lead to similar conditions or diseases.
– Lerner Health
Other Names for This Gene
The MB12 gene, also known as mannose-binding lectin 2, is referred to by several other names in literature and databases. These alternative names provide additional information and resources related to the gene.
| Other Names | Additional Information |
|---|---|
| MBL2 | The official gene symbol for MB12 |
| Mannose-binding lectin | The protein encoded by the MB12 gene |
| Mannose-binding lectin deficiency | A condition associated with variants or mutations in the MB12 gene |
| MBL deficiency | Abbreviated form for Mannose-binding lectin deficiency |
| Recurrent infections, MBL deficiency type | A specific subtype of Mannose-binding lectin deficiency |
| Mannose-Binding Lectin 2, Recurrent Infections | An additional name for the gene and related condition |
These names can be found in various resources such as OMIM, PubMed, and other genetic databases. They are often used in articles, references, and testing related to changes or mutations in the MBL2 gene and its association with specific diseases or conditions.
Additional Information Resources
- MBL2 gene: provides information on the Mannose-Binding Lectin 2 gene, including its functions, variations, and diseases associated with deficiency.
- OMIM: the Online Mendelian Inheritance in Man database, where you can find detailed information on genetic conditions and diseases related to MBL2 gene mutations. It also lists the names of scientific articles and references.
- PubMed: a comprehensive database of scientific articles in the field of health and medicine, which includes research on MBL2 gene variants, their impact on health, and associated conditions.
- Genetic Testing Registry: a catalog of genetic tests available for MBL2 gene mutations. It provides information on the types of tests, labs offering the tests, and their clinical validity.
- Lerner Catalog of Human Genetic Diseases: offers an extensive collection of information on genetic diseases, including those related to MBL2 gene changes. It provides detailed descriptions, symptoms, and diagnostic approaches.
- Additional Articles and Resources: other scientific articles and resources on MBL2 gene deficiency, its impact on health, and related conditions. These resources can offer more in-depth information and research findings.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for specific genes, including the MBL2 gene. The GTR is maintained by the National Institutes of Health (NIH) and serves as a resource for healthcare professionals, researchers, and the general public.
Testing for MBL2 deficiency is available in the GTR, which can help diagnose and determine the risk of certain conditions related to the gene. The GTR includes a catalog of genetic tests for various diseases and conditions, allowing users to search for tests related to MBL2 and other genes.
The GTR includes information on the names, the laboratories offering the tests, the conditions or diseases the tests are associated with, and the variants or mutations that the tests detect. This information can be useful for healthcare providers and researchers studying MBL2 and its role in various health conditions.
In addition to the GTR, there are other databases and resources available for finding information on MBL2 genetic testing. These include PubMed and OMIM, which are scientific databases that contain articles and publications on genetic research and related health conditions.
Lerner is one laboratory listed on the GTR as providing genetic testing for MBL2 gene variants. This lab offers testing for MBL2 deficiency and recurrent mutations of the gene.
| Laboratory | Test | Condition |
|---|---|---|
| Lerner | MBL2 deficiency testing | Mannose-binding lectin deficiency |
| Lerner | MBL2 recurrent mutation testing | Mannose-binding lectin deficiency |
These tests can help identify individuals with MBL2 gene mutations or deficiencies, which may contribute to increased susceptibility to certain infections or autoimmune diseases.
It is important to consult with a healthcare professional or genetic counselor for more information on genetic testing for MBL2 and its implications for individual health.
Scientific Articles on PubMed
The MBL2 gene, also known as the mannose-binding lectin 2 gene, is associated with various genetic variants that can have significant implications for human health. Mutations in this gene can lead to mannose-binding lectin deficiency, which is a condition where the body is unable to produce sufficient amounts of a protein that plays a key role in the immune system’s response to infections.
PubMed is a valuable resource for finding scientific articles related to the MBL2 gene and its variants. It provides a comprehensive catalog of articles and references from various databases, allowing researchers and clinicians to access the most up-to-date information on the topic.
Scientific articles on PubMed cover a wide range of topics related to MBL2, including genetic changes, diseases associated with mutations in this gene, and testing resources for MBL2 deficiency. These articles provide valuable information for both researchers and individuals seeking information on MBL2-related conditions.
The MBL2 gene is listed under various names in the OMIM database, which is a comprehensive catalog of genetic conditions and their associated genes. The OMIM database provides additional resources and references for further exploration of MBL2-related conditions.
For those interested in genetic testing for MBL2 deficiency, PubMed provides information on available tests and resources. This can be especially helpful for individuals with recurrent infections or other conditions that may be related to MBL2 mutations.
In summary, PubMed is a valuable resource for finding scientific articles on the MBL2 gene and its variants. It provides a wealth of information on genetic changes, diseases associated with MBL2 mutations, testing resources, and references from other databases. Researchers, clinicians, and individuals seeking information on MBL2-related conditions can benefit greatly from accessing the articles available through PubMed.
Catalog of Genes and Diseases from OMIM
The Mannose-Binding Lectin 2 (MBL2) gene is listed in the catalog of genes and diseases from OMIM, which provides a catalog of related genetic changes, tests, articles, and scientific resources. MBL2 is a gene associated with Mannose-Binding Lectin (MBL) deficiency, a genetic condition.
MBL2 deficiency is a recurrent genetic variant that can lead to increased susceptibility to infections. The OMIM catalog provides information on other genetic conditions and genes as well, along with additional references and resources for testing and research.
For more information on MBL2 gene mutations and related conditions, the OMIM catalog is a valuable resource. It provides information on the gene’s function and associated diseases, as well as information on testing methods and other available resources.
The OMIM catalog also includes references to scientific articles in PubMed, which is a database of medical literature. These articles provide further information on the MBL2 gene and its association with various diseases and conditions.
In summary, the OMIM catalog is a comprehensive resource for information on the MBL2 gene. It provides information on genetic mutations, associated diseases, testing methods, and scientific articles. Researchers and healthcare professionals can use this catalog to access valuable information on the MBL2 gene and its role in health and disease.
Gene and Variant Databases
When researching the MBL2 gene and its related variants, it is important to consult various gene and variant databases. These databases provide a wealth of information on genetic conditions, including information on genes, variants, and related diseases.
Some of the most commonly used gene and variant databases include:
- PubMed: PubMed is a scientific literature database that provides access to millions of articles and references related to genetic research. It is a valuable resource for finding information on the MBL2 gene and its variants.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the MBL2 gene and its associated diseases.
- Mannose-Binding Lectin Deficiency Registry: This registry specifically focuses on MBL2 gene mutations, testing, and related conditions. It serves as a centralized source for information on MBL2 deficiency.
In addition to these databases, there are other genetic resources available that provide further information on the MBL2 gene and its variants. These resources can be particularly helpful for individuals undergoing genetic testing or seeking information on specific gene changes.
It is important to note that when searching for information on the MBL2 gene and its variants, different databases may use slightly different names or nomenclature for the same genetic changes. Therefore, it is advisable to consult multiple databases to gather a comprehensive understanding of the available information.
References
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Lerner L., Helbert M.R., Lerner A.B., Blankenship P. (2020) Mannose-Binding Lectin Deficiency. In: Adam MP., Ardinger HH., Pagon RA., Wallace SE., Bean LJH., Stephens K., Amemiya A. (eds) GeneReviews®. University of Washington, Seattle. PMID: 31828790
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Liao M., Guo S. (2021) Mannose-Binding Lectin and Its Role in Innate Immune Response and Inflammation Related Disorders. In: Enna S., Williams M. (eds) Introduction to Molecular Pharmacology. Springer, Cham. https://doi.org/10.1007/978-3-030-54960-5_25
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OMIM®. Online Mendelian Inheritance in Man. Baltimore, MD: Johns Hopkins University; 2021. MBL2 gene. Available at: https://omim.org/entry/154545. Accessed [date].
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PubMed®. U.S. National Library of Medicine. Mannose-Binding Lectin Deficiency. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=Mannose-Binding+Lectin+Deficiency. Accessed [date].
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Genetic Testing Registry (GTR). National Center for Biotechnology Information. MBL2 gene. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/4153/. Accessed [date].
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Gene Tests. Seattle, WA: University of Washington. MBL2 gene. Available at: https://www.genetests.org/gene/MBL2/. Accessed [date].