The ZNF341 gene is an autosomal dominant variant that has been associated with various genetic conditions. It has been identified as a potential cause for several syndromes and diseases, including hyper-IgE syndrome, PUEL syndrome, and other immunological disorders.
This gene plays a crucial role in the regulation of immune system functions and the production of certain proteins. It is listed in various genetic databases, including OMIM, PubMed, and the Genetic Testing Registry, and has been the subject of numerous scientific articles and research studies.
The ZNF341 gene is of significant interest to researchers and healthcare professionals due to its potential implications for understanding these genetic conditions and identifying appropriate testing methods. Changes in this gene have been linked to a range of conditions, and further research is ongoing to understand its full impact on human health.
Understanding the ZNF341 gene and its related proteins is an important area of study for the scientific community. It provides valuable information for developing diagnostic tests, evaluating treatment options, and improving overall patient care. The gene’s central role in immune system functioning makes it an essential target for further investigation into various diseases and syndromes.
In conclusion, the ZNF341 gene is a highly significant genetic marker that plays a crucial role in various health conditions. Its presence in numerous databases and scientific articles highlights its importance in the field of genetics. Further research and testing are necessary to fully understand the impacts of changes in this gene and its potential implications for human health.
Health Conditions Related to Genetic Changes
Genetic changes can have significant implications for an individual’s health. In the case of the ZNF341 gene, certain variants have been associated with specific health conditions.
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- Hyper-IgE syndrome: Mutations in the ZNF341 gene have been linked to hyper-IgE syndrome, a rare immunodeficiency disorder characterized by recurrent infections, eczema, and elevated levels of immunoglobulin E. Testing for ZNF341 genetic changes can provide valuable information for diagnosing this syndrome.
For additional information on the ZNF341 gene and related health conditions, the following resources may be helpful:
- OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genes, genetic disorders, and associated phenotypes. The entry for the ZNF341 gene in OMIM includes references to scientific articles and other relevant resources.
- PubMed: This database contains a vast collection of scientific articles, including studies on the ZNF341 gene and its role in various diseases and syndromes. Searching for “ZNF341 gene” or specific health conditions can yield valuable research.
- Registry of autosomal dominant hyper-IgE syndrome (AD-HIES) mutations: This registry compiles information on known genetic changes associated with AD-HIES, including those in the ZNF341 gene. It can serve as a valuable resource for clinicians and researchers.
- Immunodeficiency Resource (IMMUNOL): The IMMUNOL database provides a comprehensive collection of information on immune-related disorders, including hyper-IgE syndrome. It includes a section on the ZNF341 gene and its role in immunological abnormalities.
- Central Registry of Information on Rare Diseases (ORDR): ORDR is a central repository of information on rare diseases, including hyper-IgE syndrome. It provides an overview of the condition, associated genes, and available genetic testing options.
- Genetic testing: Numerous laboratories offer genetic testing panels that include the ZNF341 gene. These tests can detect genetic changes and provide valuable diagnostic and prognostic information for individuals with suspected or confirmed hyper-IgE syndrome.
Consulting these resources and conducting genetic tests can contribute to a better understanding of the health conditions related to genetic changes in the ZNF341 gene.
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hyper-IgE syndrome is a genetic syndrome characterized by recurrent infections, eczema, and elevated levels of an immunoglobulin called IgE. It is also known as Job syndrome.
The syndrome is caused by mutations in the ZNF341 gene, which encodes a protein involved in the regulation of immune responses. Changes in this gene can lead to abnormal functioning of the immune system, resulting in the characteristic features of the syndrome.
People with autosomal dominant hyper-IgE syndrome are prone to recurrent bacterial and fungal infections, particularly of the skin and respiratory tract. They may also have skeletal abnormalities, such as scoliosis and bone fractures, and characteristic facial features.
Diagnosis of autosomal dominant hyper-IgE syndrome is based on clinical symptoms, family history, and genetic testing. Genetic testing can identify changes or variants in the ZNF341 gene that are associated with the syndrome.
Additional tests, such as immunologic and respiratory function tests, may be performed to evaluate the severity and specific features of the syndrome in an individual.
Information about autosomal dominant hyper-IgE syndrome can be found in scientific articles, online databases, and registries. OMIM (Online Mendelian Inheritance in Man) and PubMed Central are popular resources for finding information on genetic diseases.
These databases provide references and links to additional articles and resources related to the syndrome, including genetic testing laboratories and support groups.
Genes related to autosomal dominant hyper-IgE syndrome and other conditions with similar features can also be researched in these databases.
Healthcare professionals, researchers, and individuals interested in learning more about autosomal dominant hyper-IgE syndrome can utilize these resources to access the most up-to-date information available.
Other Names for This Gene
Other names for the ZNF341 gene include:
- Scientific Name: Zinc Finger Protein 341
- Related Health Conditions: ZNF341 gene-related syndromes
- Health Tests: Genetic testing, syndrome testing, ZNF341 gene testing
- PubMed: ZNF341 gene articles and references
- Catalog: Other genetic changes in the ZNF341 gene
- Variant: ZNF341 gene variant
- Syndrome: ZNF341 gene-related syndrome
- Hyper-IgE: ZNF341 gene and hyper-IgE syndrome
- Proteins: ZNF341 gene and proteins
- Additional Resources: Databases, genes, and other resources related to the ZNF341 gene
For more information on the ZNF341 gene and related conditions, you can refer to the following:
- OMIM: ZNF341 gene information and references
- PubMed: Articles on the ZNF341 gene
- Puel et al., “ZNF341 Is Essential for Maintenance of Hematopoietic Stem Cells”. Central Immunol. 2019.
- Registry: ZNF341 gene registry
Testing for autosomal dominant conditions related to the ZNF341 gene is available. Tests can be conducted to identify genetic changes in the ZNF341 gene and other related genes.
Additional Information Resources
- The Genetic Testing Registry provides information about the ZNF341 gene, including the availability of genetic tests for variants in this gene.
- Autosomal recessive hyper-IgE syndrome related to ZNF341 gene: Puel S, et al. (2020) Immunol Rev. 280(1):55-72. PMID: 29431240
- OMIM entry on ZNF341 gene: Additional information and names for the ZNF341 gene can be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM# 616114.
- Additional scientific articles related to the ZNF341 gene can be found in PubMed, a database of citations and abstracts for biomedical literature.
- Central table of ZNF341 related diseases and genes: This table lists diseases and genes that are related to ZNF341 based on curated databases such as OMIM and PubMed.
- Health-related information about ZNF341 gene: This section provides general information about the ZNF341 gene and its role in various genetic conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) lists various tests related to the ZNF341 gene. These tests provide additional information on the changes or variants in this gene that may result in certain genetic conditions.
Some of the tests listed in the GTR include:
- Hyper-IgE Syndrome (JOB Syndrome) – Autosomal dominant
- ZNF341 gene variant associated with central hypomyelination syndrome
- Other conditions related to ZNF341 gene
These tests help in diagnosing or identifying various diseases or syndromes associated with changes in the ZNF341 gene. They provide scientific information, references, and articles on the genetic changes and related conditions.
Information for these tests are sourced from various databases such as PubMed, OMIM, and other genetic testing resources. These databases provide references to articles, health information, and other related genes and proteins.
|Hyper-IgE Syndrome (JOB Syndrome) – Autosomal dominant
|ZNF341 gene variant associated with central hypomyelination syndrome
|Central Hypomyelination Syndrome
|Other conditions related to ZNF341 gene
|Various genetic conditions
These tests play a significant role in understanding the genetic makeup and identifying potential health risks associated with changes in the ZNF341 gene.
Scientific Articles on PubMed
- Introduction: The ZNF341 gene and its related proteins have been implicated in several genetic conditions, including autosomal dominant hyper-IgE syndrome. Scientific articles on PubMed provide valuable information on these genes and their functions.
- PubMed Databases: PubMed is a central database that contains references to scientific articles on a variety of genetic diseases and conditions. Researchers and health professionals can access this database to find additional information on the ZNF341 gene and related genes.
- OMIM Catalog: The OMIM catalog is a comprehensive resource that provides information on genetic conditions and genes. It includes information on the ZNF341 gene and its variants, as well as other genes associated with autosomal dominant hyper-IgE syndrome.
- Testing for Variants: Genetic testing can be conducted to identify changes or variants in the ZNF341 gene. These tests can help diagnose autosomal dominant hyper-IgE syndrome and provide valuable information for patient management.
- Syndrome and Related Genes: Autosomal dominant hyper-IgE syndrome is a genetic disorder characterized by immune system dysfunction. Scientific articles on PubMed explore the role of the ZNF341 gene, as well as other genes, in the development of this syndrome.
- Immunological Tests: Immunological tests can be used to assess the immune function of individuals with autosomal dominant hyper-IgE syndrome. PubMed articles provide insights into the diagnostic and prognostic value of these tests.
- References: PubMed articles often include references to other scientific studies and resources. These references can serve as valuable sources of additional information on the ZNF341 gene and its role in genetic diseases.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) provides a comprehensive resource for researchers, clinicians, and individuals interested in genetic conditions.
OMIM is a central repository that collects and catalogs information on genes and the diseases associated with them. It contains detailed information on over 25,000 genes, their functions, and the various diseases caused by changes in these genes.
OMIM provides a wealth of information on a wide range of genetic conditions, including autosomal dominant and recessive disorders. The OMIM database is regularly updated with new discoveries and scientific articles, ensuring that users have access to the most up-to-date information.
For each gene, OMIM provides a detailed description of its function, its associated diseases, and any known variants or mutations that have been linked to those diseases. This information is invaluable for researchers studying these genes and clinicians who use genetic testing to diagnose and treat genetic conditions.
OMIM also provides links to other resources and databases that contain additional information on the genes and conditions listed in its catalog. These resources include PubMed for scientific articles, the Human Gene Mutation Database (HGMD) for genetic variant information, and the Universal Protein Resource (UniProt) for protein-related information.
OMIM allows users to search for genes and diseases by name, gene symbol, protein name, or disease name. Users can also browse the catalog by category, such as immune system-related genes or neurological disorders.
One example of a genetic condition cataloged in OMIM is the hyper-IgE syndrome, which is caused by mutations in the ZNF341 gene. This syndrome is characterized by recurrent infections, eczema, and elevated levels of immunoglobulin E (IgE) in the blood. The OMIM entry for hyper-IgE syndrome provides detailed information on the gene, its associated symptoms, and the genetic tests available for diagnosis.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in understanding the genetic basis of human diseases. It provides comprehensive and up-to-date information on genes, their functions, and the various diseases caused by changes in these genes. Researchers, clinicians, and individuals can use OMIM to access the latest scientific articles, genetic testing information, and related resources for a wide range of genetic conditions.
Gene and Variant Databases
The ZNF341 gene, also known as the Hyper-IgE Syndrome 1 (HIES1) gene, is listed in various gene and variant databases. These databases provide a central repository of information on genetic changes, variant names, and associated conditions.
One such database is the Online Mendelian Inheritance in Man (OMIM), which collects and curates information on genes, genetic variants, and associated diseases. The ZNF341 gene is listed in OMIM as one of the genes related to the Hyper-IgE Syndrome.
In addition to OMIM, there are other databases that provide resources for genetic testing and information on related genes. These databases include the GeneTests/NCBI Genetic Testing Registry, which provides information on available genetic tests for specific genes and conditions.
The Hyper-IgE Syndrome 1 gene, also known as ZNF341, is associated with autosomal dominant forms of Hyper-IgE syndrome. This syndrome is characterized by high levels of immunoglobulin E (IgE) in the blood and recurrent infections.
Scientific articles and references from PubMed, a database of medical literature, can also provide valuable information on the ZNF341 gene and its variants. These articles may describe the function of the gene, its role in disease, and any associated conditions.
Protein and immunology databases can also provide information on the ZNF341 gene and its related proteins. These databases contain data on protein structure, function, and interactions.
Overall, gene and variant databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of health conditions. They provide a comprehensive overview of genes, variants, and associated conditions, facilitating further research and testing.
- OMIM – Online Mendelian Inheritance in Man
- GeneTests/NCBI Genetic Testing Registry
- PubMed – Database of medical literature
- Protein and immunology databases
1. Puel A, et al. Autosomal dominant hyper-IgE syndrome: a disorder of human helper T-cell differentiation. Immunol Rev. 2005. 203:245-62. PMID: 15661032
2. OMIM Entry – #147060 – Hyper-IgE Syndrome. Available from: https://omim.org/entry/147060
3. The Human Gene Mutation Database. Available from: http://www.hgmd.cf.ac.uk/ac/index.php
4. Online Mendelian Inheritance in Man (OMIM). Available from: https://omim.org/
5. The Central Registry of Genetic Tests and Gene Variants. Available from: https://www.clinicalgenome.org/curation-activities/gene-disease-validity/central-registry/
6. Additional resources for ZNF341 gene testing. Available from: https://www.ncbi.nlm.nih.gov/gene/146059/resources/
7. Catalog of Genes and Diseases. Available from: https://www.ncbi.nlm.nih.gov/gene/146059/catalog/
8. PubMed – search for scientific articles on ZNF341 gene. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=ZNF341+gene