The WDR45 gene, also known as the WD repeat domain 45 gene, is a protein-associated gene that plays a role in brain development and function. Mutations in this gene can lead to various neurodegenerative conditions.
The WDR45 gene is listed in various genetic databases such as OMIM and the GeneTests registry, which catalog and list genetic changes associated with diseases. These databases provide scientific information on the gene and its associated conditions.
Research on the WDR45 gene has identified variants in its DNA sequence that are associated with neurodegeneration in neurons within the brain. These variants can lead to damage of brain structures and cause additional health problems.
Genetic testing is available to detect mutations in the WDR45 gene. This can be done through various tests, such as sequencing the gene’s DNA or analyzing protein-associated changes. The results of these tests can provide important information for diagnosing and understanding neurodegenerative conditions.
References to scientific articles and resources on the WDR45 gene can be found in databases such as PubMed. These references provide further information on the gene’s function, its role in brain development, and its association with neurodegenerative diseases.
Overall, the WDR45 gene is a protein-associated gene that plays a role in brain development and function. Mutations in this gene can lead to neurodegenerative conditions, and genetic testing can be done to detect these changes and provide more information on their implications.
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Health Conditions Related to Genetic Changes
In the context of the WDR45 gene, genetic changes can lead to various health conditions and diseases. These changes can occur in different structures and neurons within the brain, resulting in damage and dysfunction. Some of the health conditions related to genetic changes in the WDR45 gene include:
- Neurodegeneration with brain iron accumulation (NBIA)
- Beta-propeller protein-associated neurodegeneration (BPAN)
- WDR45-related disorders
These conditions are listed in various databases and resources that provide information on genetic diseases. One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic disorders and related information. The OMIM entry for the WDR45 gene provides additional information on these health conditions and the genetic changes associated with them.
In addition to OMIM, there are other scientific articles, references, and studies available on PubMed that discuss the genetic changes in the WDR45 gene and their relationship to these health conditions. The scientific community has also established genetic testing resources, such as the WDR45 gene testing registry, to facilitate the diagnosis of these conditions.
Further research is ongoing to better understand the mechanisms by which genetic changes in the WDR45 gene contribute to these health conditions. This knowledge can potentially lead to the development of targeted therapies and interventions for individuals affected by these genetic changes.
Beta-propeller protein-associated neurodegeneration
Beta-propeller protein-associated neurodegeneration is a genetic condition caused by mutations in the WDR45 gene. It is also known as beta-propeller protein-associated neurodegeneration due to the role of the beta-propeller protein in the disease.
The WDR45 gene provides instructions for making a protein called WDR45. This protein is involved in the recycling of damaged or unnecessary components within cells, particularly neurons in the brain. Mutations in the WDR45 gene lead to changes in the function of the protein, resulting in the accumulation of damaged components and ultimately causing neurodegeneration.
Scientific articles related to beta-propeller protein-associated neurodegeneration can be found in databases such as PubMed. These articles provide additional information on the genetic changes associated with the condition, as well as testing and diagnostic methods.
Genetic testing can be used to identify mutations in the WDR45 gene, which can confirm a diagnosis of beta-propeller protein-associated neurodegeneration. Other resources, such as the Online Mendelian Inheritance in Man (OMIM) database, provide comprehensive information on the condition and its associated genetic variants.
In addition to the genetic changes, beta-propeller protein-associated neurodegeneration can also be associated with other clinical features and conditions. These include abnormalities in movement, speech, and cognitive function.
For more information on beta-propeller protein-associated neurodegeneration, including testing and treatment options, individuals and healthcare providers can refer to genetic health registries and catalogs of genetic diseases. These resources provide up-to-date information on the condition, including ongoing research and available clinical trials.
References:
- OMIM: Beta-Propeller Protein-Associated Neurodegeneration
- PubMed: Genetic changes in beta-propeller protein-associated neurodegeneration
- Genetic health registries and catalogs of genetic diseases and conditions
Other Names for This Gene
The WDR45 gene is also known by several other names:
- Beta-Propeller Protein-Associated Neurodegeneration (BPAN): This name is derived from the protein-associated changes and neurodegeneration associated with mutations in this gene. BPAN is one of the specific conditions caused by mutations in the WDR45 gene.
- Neurodegeneration with Brain Iron Accumulation 5 (NBIA5): This name refers to the specific type of neurodegeneration that occurs as a result of changes in the WDR45 gene. NBIA is a group of rare genetic disorders characterized by abnormal iron accumulation in the brain.
- WDR45-related Neurodegeneration: This name highlights the relationship between the WDR45 gene and the neurodegeneration observed in affected individuals. WDR45-related neurodegeneration encompasses a spectrum of related conditions caused by mutations in this gene.
- PLA2G6-Associated Neurodegeneration (PLAN): This name reflects the association between the WDR45 gene and mutations in the PLA2G6 gene, which is another gene that can cause neurodegeneration. Mutations in both genes can lead to similar neurodegenerative disorders.
These alternative names for the WDR45 gene provide more information about its functions and associated conditions. They can be useful for scientific databases, genetic testing labs, and healthcare professionals who need to retrieve information or perform testing related to this gene.
Additional Information Resources
In addition to scientific articles, there are other resources available to learn more about the WDR45 gene and related conditions. These resources provide information on genetics, neurodegeneration, and protein-associated diseases.
Genetic Databases
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genetic information, including references and related genes. It lists the genetic changes associated with the WDR45 gene and their impact on health.
- PubMed: PubMed is a database of scientific articles. It contains articles on the WDR45 gene, its variants, and their role in neurodegeneration and related brain conditions.
Protein-Associated Databases
- Beta-Propeller Protein-Associated Neurodegeneration (BPAN) Catalog: This catalog provides information on the testing, changes in the WDR45 gene, and protein-associated neurodegeneration.
Testing and Health Resources
- Genetic Testing: Genetic testing can be done to detect variants in the WDR45 gene. These tests can help diagnose and understand related diseases and conditions.
- Cell Recycling and Brain Structures: The WDR45 gene is involved in cell recycling within the brain and the formation of brain structures. Understanding its role can provide insights into related conditions.
These resources offer additional information and references for those interested in learning more about the WDR45 gene and its role in neurodegeneration and protein-associated diseases.
Tests Listed in the Genetic Testing Registry
The WDR45 gene, also known as the WD repeat domain 45 gene, is associated with a variety of health conditions and neurodegeneration. Various tests are listed in the Genetic Testing Registry to identify changes in this gene that may contribute to these disorders.
Genetic testing can help determine the presence of variants or mutations in the WDR45 gene, which can be useful in diagnosing related diseases and conditions. The registry provides a catalog of tests available for this gene, offering healthcare professionals and researchers valuable information on available testing options.
These genetic tests can help identify changes in the WDR45 gene, such as certain variant alleles or deletions, that may be linked to neurodegeneration and other related conditions. By identifying these changes, healthcare professionals can better understand the underlying causes of these diseases and work towards effective treatments.
The Genetic Testing Registry lists various names and descriptions of tests related to the WDR45 gene. Each test is accompanied by additional information, such as the types of changes or variants they detect and the methodologies used. These tests can be helpful in diagnosing neurodegenerative disorders and understanding the role of the WDR45 gene in related conditions.
In addition to the Genetic Testing Registry, other resources, such as OMIM, PubMed, and scientific articles, provide further information on the WDR45 gene and its role in neurodegeneration. These resources provide valuable references and references for healthcare professionals and researchers looking to delve deeper into the topic.
It is important to note that genetic testing alone cannot provide a complete picture of a person’s health. Clinical evaluation and medical history are crucial in the overall assessment of a patient’s condition and the appropriate management of their healthcare needs.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the WDR45 gene and its role in various diseases and conditions. The WDR45 gene is also known as the beta-propeller protein-associated neurodegeneration gene, and it is involved in the genetic changes and damage seen in conditions such as cell recycling within neurons.
PubMed catalogs a wide range of articles that provide additional scientific information on these topics. These articles cover various aspects of the WDR45 gene, including its function, associated diseases, and genetic variants. Many of these articles provide insights into neurodegeneration and related conditions.
Researchers and health professionals can use PubMed to access articles related to the WDR45 gene and its role in various conditions. By searching for the gene name or related terms, they can find articles that provide important information on testing, genetic changes, and other related topics.
The articles listed in PubMed cover a wide range of topics related to the WDR45 gene. They include studies on the function of the gene, its role in diseases, and potential treatments or interventions. Some articles focus on specific genetic variants or changes associated with neurodegeneration or other conditions.
In addition to scientific articles, PubMed also provides access to other resources such as databases, registries, and genetic testing resources. These resources can provide further information on the WDR45 gene and associated conditions.
By using PubMed and related resources, researchers and health professionals can access a wealth of scientific information on the WDR45 gene and its role in various diseases and conditions. This information can help advance our understanding of neurodegeneration and potentially lead to improved diagnostics and treatments for these conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic conditions and related genes. OMIM, short for Online Mendelian Inheritance in Man, is a valuable resource for researchers, physicians, and individuals interested in genetic health.
OMIM catalogs information on genes and diseases that are associated with various health conditions. It includes references to scientific articles, genetic tests, and other resources that provide in-depth information on specific genes and their roles in disease.
Genes listed in the OMIM catalog are often associated with specific diseases or conditions. For example, the WDR45 gene is associated with a neurodegeneration called Beta-propeller protein-associated neurodegeneration. This condition affects neurons in the brain and can cause significant damage.
Within the catalog, each gene is categorized based on its function and associated diseases. This makes it easier for researchers and healthcare professionals to find relevant information when studying a specific gene or condition.
In addition to the information on genes and diseases, OMIM also provides resources for genetic testing. It includes a registry of labs that offer testing for specific genetic variants, along with information on the tests themselves.
OMIM is a valuable tool for researchers and healthcare providers looking for information on genetic conditions and the genes associated with them. It brings together a wealth of information from various databases, including PubMed, to provide a comprehensive resource for those working in the field of genetics.
| Feature | Description |
|---|---|
| Genetic condition names | Names of diseases or conditions caused by specific genes |
| Gene names | Listed genes associated with specific diseases or conditions |
| References | Scientific articles and other resources providing additional information on specific genes and diseases |
| Genetic testing | Information on tests for specific genetic variants |
| Related conditions | Genetic conditions or diseases that are related to a particular gene |
| Protein-associated neurodegeneration | Neurodegenerative disorders characterized by the accumulation of abnormal proteins in the brain |
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic health. It provides a wealth of information on genes, diseases, and the relationships between them, helping to advance our understanding of genetics and improve patient care.
Gene and Variant Databases
For protein-associated genes and variants, there are several databases that provide information on these structures. These databases catalog the changes in the WDR45 gene and other protein-associated genes, providing additional information on their health-related conditions.
One such database is the Online Mendelian Inheritance in Man (OMIM) database, which lists genetic diseases and their associated genes. Within this database, information on the WDR45 gene can be found, including references to scientific articles and clinical testing resources.
Another database is PubMed, which is a widely used resource for scientific articles. It contains a vast amount of information on genes and their associated variants, including those related to neurodegeneration and brain health.
Additionally, the Protein Data Bank (PDB) is a database that provides information on protein structures. It includes structures of the WDR45 gene and other related proteins, allowing for a better understanding of their functions and potential damage and recycling processes.
These databases play an important role in the field of genetics by providing researchers and scientists with a wealth of information on genes and their associated variants. They help to facilitate research on neurodegenerative conditions and brain health, allowing for a greater understanding of these complex diseases.
| Database Name | Description |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | A comprehensive database of genetic diseases and their associated genes, providing references and resources for further research. |
| PubMed | A database of scientific articles and publications, containing information on genes, variants, and related research. |
| Protein Data Bank (PDB) | A resource for protein structures, including those associated with the WDR45 gene and other proteins. |
By accessing these databases, researchers and scientists can gather valuable information on genes and their variants, contributing to the advancement of knowledge in the field of genetics and improving our understanding of various diseases and conditions.
References
- WDR45 Gene – Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/gene/WDR45#resources.
- WDR45 Gene – OMIM Entry – #300526 – NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5. Available at: https://omim.org/entry/300526.
- WDR45 gene – Genetics Home Reference – NIH. Available at: https://www.ncbi.nlm.nih.gov/gene/126375.
- WDR45 Gene – PubMed – NCBI. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=WDR45+gene.
- WDR45 Gene – Neurodegeneration with Brain Iron Accumulation. Available at: https://beta-propeller.org/wdr45/.
For more information and resources on the WDR45 gene and related conditions, you can refer to the following articles and databases:
- Genetics Home Reference: Provides information on genes and genetic conditions. More information on the WDR45 gene can be found here.
- OMIM: Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders. The entry for NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (NBIA5) can be found here.
- NCBI Gene: National Center for Biotechnology Information database for genetic information. Information on the WDR45 gene can be found here.
- PubMed: Provides access to scientific articles on various topics. Search for articles on the WDR45 gene here.
- Beta-Propeller: A database on genes and protein-associated structures. More information on the WDR45 gene can be found here.