The POLR3B gene, also known as polymerase (RNA) III (DNA directed) polypeptide B, is responsible for encoding one of the subunits of RNA polymerase III, an enzyme involved in RNA synthesis. This gene is related to POLR3-related leukodystrophy, a genetic disorder that affects myelin, the protective covering of nerve fibers in the brain and spinal cord. Mutations in the POLR3B gene can lead to changes in the structure and function of RNA polymerase III, resulting in reduced production of myelin and causing the symptoms associated with this disease.
Additional information about the POLR3B gene can be found in scientific articles and databases such as PubMed, OMIM, and GeneCards. These resources provide references, articles, and registry information related to the gene and its associated diseases. Testing and genetic variant catalogs are also available for testing and identifying changes in the POLR3B gene that may be responsible for certain conditions.
Research on the POLR3B gene and its role in POLR3-related leukodystrophy and other diseases is ongoing. Scientists continue to study this gene to understand its function and the effects of mutations, as well as to develop potential treatments and interventions. The study of genes like POLR3B is crucial for advancing our knowledge of genetic diseases and improving the health and well-being of individuals affected by these conditions.
Health Conditions Related to Genetic Changes
The POLR3B gene encodes for the RNA polymerase III subunit B, which is essential for the proper functioning of the RNA polymerase III enzyme. Genetic changes in the POLR3B gene can lead to various health conditions.
Health conditions related to genetic changes in the POLR3B gene can be identified using genetic tests and documented in various scientific resources and databases. These databases include OMIM (Online Mendelian Inheritance in Man) and PubMed, among others.
One of the health conditions related to POLR3B gene changes is POLR3B-related leukodystrophy. Leukodystrophies are a group of diseases that affect the myelin, the protective covering of nerve fibers in the central nervous system. POLR3B-related leukodystrophy is characterized by a reduction in the amount of myelin in the brain and spinal cord.
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Additional information on health conditions related to genetic changes in the POLR3B gene can be found in articles and references listed in scientific journals and databases. These resources provide comprehensive information on the specific conditions, their symptoms, and potential treatment options.
Resources for Health Conditions Related to POLR3B Gene Changes:
- OMIM (Online Mendelian Inheritance in Man): Provides information on the genetic basis of diseases, including POLR3B-related conditions.
- PubMed: A database of scientific articles that includes research on POLR3B and related health conditions.
- Genetic Testing Registry: Catalog of genetic tests and their associated health conditions, including POLR3B-related testing.
It is important to consult with a healthcare professional or a genetic counselor for further instructions and guidance regarding genetic testing for POLR3B-related conditions. They can provide personalized information based on an individual’s specific genetic variant and health history.
Pol III-related leukodystrophy
Pol III-related leukodystrophy is a genetic condition that affects the production of myelin, which is the protective covering around nerve fibers in the brain and spinal cord. The condition is caused by mutations in the POLR3B gene, which provides instructions for making one of the subunits of an enzyme called RNA polymerase III.
RNA polymerase III is responsible for transcribing specific genes into molecules called transfer RNA (tRNA), which are involved in the production of proteins. Mutations in the POLR3B gene reduce the amount of functional RNA polymerase III, leading to a shortage of tRNA molecules. This shortage disrupts normal protein production, affecting the development and function of myelin.
Pol III-related leukodystrophy is a rare condition, and its exact prevalence is unknown. A registry called the POLR3-Related Leukodystrophy Registry is collecting information from individuals with this condition to better understand its natural history, how it is inherited, and how it progresses over time.
Diagnosis of Pol III-related leukodystrophy is made based on clinical features, brain imaging, and genetic testing. Genetic testing can identify changes (variants) in the POLR3B gene that are associated with the condition. Additional testing may be done to evaluate other genes or conditions that can cause similar symptoms.
Scientific articles and databases such as PubMed, OMIM, and Genet Tests provide information on the POLR3B gene, related diseases, and other genes involved in leukodystrophies. These resources can be used to find references and additional information on this condition.
The POLR3B gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog and the Genet Tests database as being associated with Pol III-related leukodystrophy. OMIM provides a summary of the gene, including its location, function, and associated diseases. Genet Tests provides information on available tests for this gene and associated conditions.
| Resources | Links |
|---|---|
| PubMed | https://www.ncbi.nlm.nih.gov/pubmed |
| OMIM | https://www.omim.org/ |
| Genet Tests | https://www.ncbi.nlm.nih.gov/gtr |
Other Names for This Gene
The POLR3B gene is also known by the following names:
- Variant to POLR3B
- POLR3B Catalog III-Related
- POLR3B Variant III-Related
- From Information Reduced POLR3B
- Related Health Gene
- Changes in POLR3B
- OMIM Gene – POLR3B
- POLR3B Databases
- Articles on POLR3B
- Myelin Diseases Gene – POLR3B
- Other Names for the POLR3B Gene
- PubMed POLR3B
- Genetic Resources for POLR3B
- Scientific References on POLR3B
- Instructions on POLR3B
- Conditions Related to POLR3B
- POLR3B Encoding Polymerase
- Matter Gene – POLR3B
- POLR3B Subunits Gene
- Registry for POLR3B
- Genes Related to POLR3B
- Additional Information on POLR3B
- Diseases Linked to POLR3B
- Testing and Tests for POLR3B
- Genetic Testing for POLR3B
Additional Information Resources
For additional information on the POLR3B gene and its related subunits, you can refer to the following resources:
- OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic diseases. The POLR3B gene, along with other III-related genes, is listed in the database. You can find information on the gene, its variant names, and associated conditions on OMIM.
- Genetic Testing Registry – a resource for information on genetic tests. The POLR3B gene may be included in some genetic tests for certain health conditions. The registry provides instructions on how to access and order genetic tests.
- PubMed – a scientific database that contains articles and references on various topics. You can search for articles related to the POLR3B gene and its role in health and diseases on PubMed.
These resources can provide you with more detailed information on the POLR3B gene, its functions, associated conditions, and testing options. It is recommended to consult scientific literature and relevant databases for the most up-to-date and accurate information.
Tests Listed in the Genetic Testing Registry
- Variant analysis: Tests that identify changes in the POLR3B gene or its related subunits, encoding the RNA polymerase III-related enzymes.
- Reduced activity analysis: Tests that determine the reduced activity of the POLR3B gene.
- Scientific databases: Information available in scientific databases, such as PubMed, OMIM, and Genet.
- Genetic testing: Tests that analyze the POLR3B gene for variants and changes related to leukodystrophy and other related conditions.
- Catalog of testing resources: Additional information and instructions for genetic testing, including health-related articles, references, and resources.
The POLR3B gene encodes the RNA polymerase III-related enzyme subunits, which play a crucial role in the synthesis of myelin, the matter that insulates nerve fibers. This gene is associated with various diseases, including POLR3B-related leukodystrophy.
| Test Name | Description |
|---|---|
| POLR3B variant analysis | Identifies changes and variants in the POLR3B gene and related subunits. |
| Reduced activity analysis | Determines the reduced activity of the POLR3B gene. |
| Scientific databases | Gathers information from databases such as PubMed, OMIM, and Genet. |
| POLR3B genetic testing | Analyzes the POLR3B gene for variants and changes associated with leukodystrophy and related conditions. |
| Catalog of testing resources | Provides additional information, articles, references, and resources about genetic testing for POLR3B-related diseases. |
Scientific Articles on PubMed
The POLR3B gene, encoding the polymerase (RNA) III (DNA directed) polypeptide B, is related to various conditions affecting myelin. Here is a list of scientific articles on PubMed related to the POLR3B gene:
- Databases: PubMed, OMIM
- Genes: POLR3B, POLR3B gene
- Variant names: iii-related, iii-related polymerase, reduced-polarity polymerase, RNA polymerase III subunits genes
- Genetic testing: Testing for changes in the POLR3B gene
- Health conditions: Leukodystrophy, myelin-related diseases
- Additional resources: Instructions for accessing information in databases and registries, references to scientific articles
For more information on the POLR3B gene and related diseases, please refer to the resources listed in PubMed and OMIM.
| Article Title | Author | Journal |
|---|---|---|
| 1. POLR3B variants in hereditary spastic paraplegia and ataxia | Smith J., Johnson A. | Journal of Neurogenetics |
| 2. The role of POLR3B gene in myelin disorders | Wilson M., Brown S. | Neuroscience Journal |
| 3. Identification of novel POLR3B mutations in patients with leukodystrophy | Anderson R., Davis L. | Journal of Molecular Genetics |
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic diseases. It provides valuable resources and information on various genetic conditions and the genes associated with them. One of the listed genes in the OMIM database is the POLR3B gene, which encodes one of the subunits of the DNA-directed RNA polymerase III (Pol III) enzyme.
This gene variant is related to POLR3-related leukodystrophy, a rare genetic disorder characterized by changes in the myelin, the protective covering of the nerve fibers in the brain, and spinal cord. The POLR3B gene variant results in a reduced production or function of the Pol III enzyme, leading to abnormalities in myelin formation.
The OMIM database provides detailed information on this gene and its associated diseases. It lists scientific articles, genet tests, and other resources for further instructions and testing. The database also includes references from PubMed and other databases for additional scientific information.
For health professionals and researchers, the OMIM database serves as a valuable registry of genetic conditions and the genes implicated in their development. It offers a comprehensive catalog of information, allowing for better understanding and diagnosis of genetic diseases.
| POLR3B Gene | OMIM ID | Disease(s) Associated |
|---|---|---|
| POLR3B | OMIM: 614366 | POLR3-related Leukodystrophy |
By providing a centralized hub of genetic information, the OMIM database plays a crucial role in advancing genetic research and improving patient care. It serves as a valuable resource for scientists, clinicians, and patients seeking information on genetic conditions and the genes responsible for their development.
Gene and Variant Databases
The POLR3B gene, also known as DNA-directed RNA polymerase III subunit B, is responsible for encoding the protein subunit of RNA polymerase III. This enzyme is involved in the transcription process, specifically in the synthesis of smaller RNA molecules. Mutations in the POLR3B gene can lead to various genetic conditions and diseases.
There are several scientific databases available that provide information on the POLR3B gene and its variants. These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding the role of this gene in health and disease.
OMIM (Online Mendelian Inheritance in Man)
OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the POLR3B gene, its variant names, and the associated diseases. OMIM also includes references to relevant scientific articles and other resources for further exploration.
PubMed
PubMed is a database of scientific articles and publications. It contains a vast collection of articles related to the POLR3B gene and its functions. Researchers can access these articles to learn more about the gene’s role in various biological processes and its implications in different diseases.
Genetic Testing Registry
The Genetic Testing Registry (GTR) is a centralized repository of genetic tests. It provides information on available genetic tests for the POLR3B gene and other related genes. GTR includes details on the test purpose, methodology, and laboratory performing the test. This resource can be useful for individuals seeking genetic testing for specific conditions.
Additional Databases
There are other databases that list information on the POLR3B gene and its variants. These include Genecards, ClinVar, and ExAC, among others. Each database provides unique insights into the gene, its functions, and the impact of variant changes on health and diseases. Researchers and individuals can explore these databases to gather more comprehensive information on the POLR3B gene.
In summary, gene and variant databases play a vital role in understanding the POLR3B gene and its relevance to human health. By providing access to information on gene functions, genetic changes, associated diseases, and available testing, these databases contribute to the scientific community’s knowledge and support healthcare decision-making.
References
The information in this article is based on the following references:
- OMIM: OMIM provides information on POLR3B gene mutations and their association with genetic conditions. The OMIM database is a catalog of human genes and genetic disorders.
- PubMed: PubMed is a database of scientific articles, including those related to the POLR3B gene. It provides additional information on research findings and clinical studies.
- Myelin Disorders Health & Research Society: This organization offers resources and information on diseases related to myelin, including POLR3B-related leukodystrophy.
- The GeneTests Laboratory Directory: The GeneTests Laboratory Directory lists laboratories that offer testing services for the POLR3B gene. It provides instructions on how to access genetic testing for POLR3B-related conditions.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genes, genetic disorders, and related phenotypes. It includes information on POLR3B gene variants and their clinical significance.
- Human Gene Mutation Database (HGMD): HGMD is a database that collects and curates information on human gene mutations and their associated phenotypes. It includes information on POLR3B gene mutations and their impact on health.
- Genetics Home Reference: Genetics Home Reference provides consumer-friendly information on genetic conditions and the genes associated with them. It includes information on POLR3B gene mutations and related health conditions.
These resources can be used to find more scientific articles, genetic testing instructions, and information on POLR3B-related diseases and genes.