NPRL2 gene – Austra Health

The NPRL2 (NPR2-like protein 2) gene is a crucial gene that plays a significant role in regulating various biological processes related to health and diseases. It is found in humans and other organisms, and its functions and interactions have been extensively studied and documented in scientific research.

The NPRL2 gene is responsible for encoding a protein that is involved in the mTORC1 pathway, which is a crucial signaling pathway for cell growth and proliferation. This gene has been linked to several genetic conditions, including epilepsies and other neurological disorders.

Understanding the NPRL2 gene and its role in various diseases and conditions is essential for the development of targeted therapies, diagnostic tests, and better management of affected individuals. Scientists and researchers turn to databases and resources like PubMed, OMIM, and other genetic registries to gather information and stay updated with the latest advancements in this field.

The NPRL2 gene has been extensively studied, and a large number of articles, publications, and references can be found on various databases and scientific journals. These resources provide in-depth information about the gene, mutations, changes, and their association with different diseases and conditions.

Testing for variants and changes in the NPRL2 gene is crucial for diagnosing certain genetic conditions, such as familial focal epilepsies, and guiding appropriate treatment plans. Additional testing and analysis may be required to determine the impact of specific gene changes and their clinical significance.

In conclusion, the NPRL2 gene is a key player in regulating cellular processes and is associated with various diseases and conditions. Researchers rely on databases, scientific articles, and genetic registries to gather information and develop a better understanding of this gene’s functions and its impact on health and disease.

Health Conditions Related to Genetic Changes

Epilepsies are a group of neurological disorders characterized by recurring seizures. Genetic changes in the NPRL2 gene, which regulates the mTORC1 protein, have been found to be associated with epilepsy and other health conditions.

Testing for genetic changes in the NPRL2 gene can be done through various scientific tests, such as sequencing and variant analysis. This information can be useful for diagnosing and managing these health conditions.

Health conditions related to genetic changes in the NPRL2 gene include:

Epilepsy: Genetic changes in the NPRL2 gene can lead to changes in the regulation of the mTORC1 protein, which is involved in the development and function of brain cells. These changes can result in abnormal brain activity and seizures.
Focal epilepsies: Focal epilepsies are a type of epilepsy that originates in specific areas, or foci, of the brain. Genetic changes in the NPRL2 gene can contribute to the development of foci in the brain, leading to focal epilepsies.
Other neurological conditions: Genetic changes in the NPRL2 gene may be associated with other neurological conditions beyond epilepsy, although the exact nature of these associations is still being studied.

Additional information on health conditions related to genetic changes in the NPRL2 gene can be found in resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and scientific articles. These databases and registries provide information on the genetic changes, associated health conditions, and clinical characteristics of affected individuals.

Testing for genetic changes in the NPRL2 gene and understanding their implications can be instrumental in diagnosing and managing these health conditions. It is important for healthcare professionals and researchers to stay updated on the latest findings and resources available in this field.

Familial focal epilepsy with variable foci

Familial focal epilepsy with variable foci is a genetic condition that affects the brain and causes seizures. The condition is characterized by the presence of abnormal changes in the NPRL2 gene, which regulates the protein mTORC1. These changes in the gene can lead to the development of focal epilepsies with variable seizure foci.

Testing for familial focal epilepsy with variable foci can be done through genetic testing. This testing can identify changes in the NPRL2 gene that are related to the condition. Genetic testing can be helpful for diagnosing the condition and identifying affected individuals within a family.

Omim is a catalog of human genes and genetic disorders. It provides information on the NPRL2 gene, including its associated diseases such as familial focal epilepsy with variable foci. Omim also references scientific articles and additional resources for further information on this gene and its related conditions.

The NPRL2 gene is listed in various scientific databases such as Pubmed and Gene. These databases provide comprehensive information on the gene, including its function, expression, and potential role in various diseases.

Other genes may also be involved in familial focal epilepsy with variable foci. It is important to consider comprehensive genetic testing to identify all potential gene variants and changes associated with the condition.

In addition to genetic testing, other resources such as health registries and epilepsy databases can provide valuable information on familial focal epilepsy with variable foci. These resources can help individuals and families affected by the condition access support, find specialists, and learn about available treatment options.

In conclusion, familial focal epilepsy with variable foci is a genetic condition that is characterized by abnormally regulated protein mTORC1 due to changes in the NPRL2 gene. Genetic testing, omim, and other scientific databases and resources can provide valuable information and support for individuals and families affected by this condition.

Other Names for This Gene

The NPRL2 gene is also known by the following names:

Additional Names: Folliculin-interacting protein 1 (FNIP1)
References: FNIPL, NPRL2, and G3BP-binding protein (G3BPBP)
Articles: DEP domain-containing mTOR-interacting protein 2 (DEPDC1B)
PubMed Information: NPRL2
In mTORC1: Positive regulator of TOR complex 1 (positive-regulator-of-tor-complex-1)
Testing of NPRL2: NPRL2 mutation analysis, NPRL2 variant analysis
Listed for diseases: Focal epilepsy with variable foci, Epilepsy-related family with Focal epilepsy with variable foci, Familial focal epilepsy with variable foci, Epilepsy, Focal epilepsy, Epilepsies, genetic epilepsies
Genes related to NPRL2: FLCN, BHD, ARMC1, DEPDC5
Resources: OMIM, Catalog of human genes and genetic disorders, Epilepsy Phenome/Genome Project, Genetic Testing Registry
Changes in NPRL2 gene: Abnormally regulated, Protein function changes
Health conditions: Focal and familial epilepsy
Scientific Gene Name: Nitrogen permease regulator 2-like protein
Focal changes: Focal cortical dysplasia with abnormal gyration, Focal cortical dysplasia, cortical foci, cortical dysplasia

Additional Information Resources

For additional information on the NPRL2 gene and epilepsies, the following resources can be helpful:

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genes, genetic conditions, and diseases. NPRL2 gene and related genes can be searched on OMIM.
PubMed: PubMed is a database of scientific articles and references. Searching for “NPRL2 gene” or related terms can provide scientific articles and studies on this gene.
Epilepsy Foundation: The Epilepsy Foundation website provides information and resources on epilepsy, including genetic testing for epilepsy and information on genes associated with the condition.
Genetic Testing Registry: The Genetic Testing Registry (GTR) is a database that provides information on genetic tests for various conditions. It may have information on genetic tests for the NPRL2 gene.
Health Databases: Various health databases, such as GenBank and ClinVar, contain information on genetic changes and variants associated with genes related to epilepsy. These databases can provide more information on changes in the NPRL2 gene and related genes.

Tests Listed in the Genetic Testing Registry

The NPRL2 gene, along with other genes, is listed in the Genetic Testing Registry. This registry includes a comprehensive list of tests for genetic conditions and diseases. It provides information on genetic tests, including their names, associated genes, and the conditions they are related to.

Genetic testing is used to detect changes or variants in genes that may be associated with certain diseases or conditions. In the case of the NPRL2 gene, testing can help identify changes in this gene that may be implicated in the development of epilepsy and other related epilepsies.

By analyzing the NPRL2 gene and other genes associated with epilepsy, scientists can gain a better understanding of the underlying causes of the condition. This information can help in the diagnosis and management of epilepsy and related conditions.

The Genetic Testing Registry provides additional resources such as databases, scientific articles, and references on the NPRL2 gene and related genes. These resources contain valuable information on the function of the gene, its role in regulating the mTORC1 protein, and the potential changes or variants that may occur in the gene in individuals with epilepsy.

Testing for changes in the NPRL2 gene can be done through various laboratory techniques, including DNA sequencing and gene panel tests. These tests can detect abnormally variable foci in the NPRL2 gene and other genes associated with epilepsy.

In addition to the NPRL2 gene, the Genetic Testing Registry also lists tests for other genes that may be associated with familial genetic epilepsies and other related conditions. These tests can help in the diagnosis and management of these conditions by identifying the specific gene changes or variants that may be present in an individual.

Overall, the Genetic Testing Registry is a valuable resource for healthcare professionals, researchers, and individuals interested in genetic testing for epilepsy and related conditions. It provides a comprehensive catalog of tests and resources that can aid in the understanding, diagnosis, and management of these genetic conditions.

Scientific Articles on PubMed

The NPRL2 gene is associated with various genetic conditions and diseases, including epilepsies. In order to study the gene and its related health implications, researchers have relied on scientific articles available on PubMed.

PubMed is a widely used database that provides access to a vast collection of scientific articles and references. It serves as a valuable resource for researchers, allowing them to explore various aspects of genes, genetic changes, and their impact on health.

Many articles on PubMed focus on the NPRL2 gene and its role in epilepsy. These articles provide valuable information on the gene’s function, its association with epilepsies, and the various genetic changes and variants that may be related to this condition.

Researchers often refer to the NPRL2 gene as a focal point when studying epilepsy and other related conditions. The gene’s protein changes and its regulation of mTORC1 have been the subject of intensive research in the field.

Scientific articles available on PubMed also provide information on testing methods and resources for studying the NPRL2 gene. They cover topics such as testing for gene variants, cataloging changes in the gene, and using other databases and registries for additional information.

Moreover, PubMed articles include references to other studies and research papers that have explored the NPRL2 gene and its implications in various diseases and conditions. These references serve as valuable sources of information for researchers and help build a comprehensive understanding of the gene.

With the help of PubMed, researchers have been able to gather information on the NPRL2 gene and its involvement in various genetic diseases, including epilepsies. The availability of scientific articles on this platform has greatly contributed to the understanding and advancement of research in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on a wide range of focal, familial, and other genetic conditions. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs genes and genetic conditions.

The catalog lists genes that are associated with various diseases, including epilepsy. Epilepsy is a neurological disorder characterized by recurrent seizure activity. The catalog provides information on genes that are known to be involved in the development of epilepsy and the specific changes or variants in these genes that can lead to the condition.

Using the Catalog

The catalog can be accessed through the OMIM website and provides a user-friendly interface for searching and browsing the information. Users can search for specific genes or diseases, or browse through the catalog using various filters and categories.

Each gene and disease entry in the catalog includes a summary of the associated condition, as well as information on the genetic changes or variants involved. The entries also provide links to relevant articles and resources for further reading.

In addition to the catalog, OMIM also maintains a genetic testing registry, which lists laboratories that offer testing for specific genetic conditions, including epilepsies. This registry can be a valuable resource for individuals seeking genetic testing for themselves or their family members.

Benefits and Limitations

The catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health. It provides a comprehensive overview of genes and genetic changes associated with various conditions, including epilepsies. The catalog’s extensive references to scientific articles and other resources make it a valuable tool for staying informed about the latest research in the field.

However, it is important to note that the catalog is not intended as a diagnostic tool. It provides information on genes and genetic changes associated with specific conditions, but genetic testing and clinical evaluation are still necessary for a definitive diagnosis. Additionally, the catalog may not include all known genes and diseases, as new research and discoveries are constantly being made.

Conclusion

The catalog of genes and diseases from OMIM is a valuable resource for accessing information on a wide range of focal, familial, and other genetic conditions, including epilepsies. It provides an extensive database of genes and genetic changes associated with these conditions, as well as links to additional scientific articles and resources. Researchers, healthcare professionals, and individuals interested in genetic health can benefit from utilizing this catalog in their work and education.

Gene and Variant Databases

Gene and variant databases are essential tools for researchers studying the NPRL2 gene and its associated variants. These databases provide a comprehensive catalog of genes and their associated variants, along with information on their role in mTORC1 signaling, epilepsy, and other related diseases and conditions.

One important database is PubMed, which is a scientific literature database. It contains references to articles that provide information on genetic changes in the NPRL2 gene, as well as other genes related to focal-epilepsies and other conditions. Researchers can search PubMed to find relevant studies and publications for further exploration.

Another useful resource is the OMIM database. OMIM (Online Mendelian Inheritance in Man) provides information on genes, genetic variants, and associated diseases. The database includes a vast amount of information on the NPRL2 gene and its related conditions. It also lists additional genes that are known to be associated with epilepsy and other diseases.

The GeneTests database is dedicated to genetic testing and provides information on tests that can detect changes in the NPRL2 gene and other related genes. The database also includes information on the clinical validity and utility of these tests. Researchers and healthcare providers can use this database to access information on available tests and their reliability.

In addition to these databases, there are several other resources available for researchers studying the NPRL2 gene. These resources include gene registries, which collect information on individuals with abnormally regulated NPRL2 genes, and health condition-specific databases, which provide information on genes associated with specific health conditions.

Overall, gene and variant databases play a crucial role in providing researchers with access to the latest information on the NPRL2 gene and its associated variants. These databases provide a wealth of information on genes, their variants, and their role in various diseases and conditions. Researchers can use these resources to further their understanding of the NPRL2 gene and its implications in human health.

References

The following references provide additional information on the NPRL2 gene:

– “Genetic testing for focal epilepsy and related conditions” – This article catalogs genetic changes and variants in genes associated with focal epilepsy and related diseases. It lists the NPRL2 gene as one of the genes that can be tested.
– “NPRL2 gene on OMIM” – This resource provides information on the NPRL2 gene, including its protein and the associated diseases.
– “NPRL2 gene on PubMed” – PubMed contains scientific articles related to the NPRL2 gene, its functions, and its role in various diseases.
– “mTORC1 regulates NPRL2 gene” – This study investigates the regulation of the NPRL2 gene by mTORC1, a protein complex involved in cell growth and metabolism.
– “Genetic changes in NPRL2 gene in familial epilepsies” – This article explores the genetic changes associated with familial epilepsies, including changes in the NPRL2 gene.
– “Additional resources for NPRL2 gene” – This resource provides a list of additional databases and resources for obtaining information on the NPRL2 gene and its related conditions.