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The NPRL3 gene, also known as the nitrogen permease regulator 3-like protein, is a gene that regulates the mTORC1 pathway. This pathway plays a crucial role in cellular processes such as growth, proliferation, and metabolism. NPRL3 protein is a part of a protein complex that controls the activity of mTORC1.

Changes in the NPRL3 gene have been associated with a variety of conditions and diseases, including focal cortical dysplasia and epilepsy. Studies have shown that mutations in the NPRL3 gene can lead to abnormal foci in the brain, which are commonly seen in patients with epilepsy. Understanding the function and regulation of the NPRL3 gene can provide important insights into the development of targeted therapies for these conditions.

Information about the NPRL3 gene can be found in various scientific resources and databases. The gene is listed in databases such as OMIM, PubMed, and the Catalog of Genes and Diseases. These resources provide additional information on the gene, including references to relevant articles and genetic tests that can be used to detect changes in the NPRL3 gene.

The NPRL3 gene is just one of many genes involved in the regulation of the mTORC1 pathway. Other genes in this pathway, such as TSC1 and TSC2, have also been associated with related conditions and diseases. Understanding the interaction between these genes and how they regulate mTORC1 can provide valuable insights into the development and treatment of various health conditions.

In conclusion, the NPRL3 gene is an important regulator of the mTORC1 pathway. Changes in this gene have been associated with a variety of health conditions, particularly those involving abnormal focal cortical dysplasia and epilepsy. By studying the NPRL3 gene and its related genes, researchers can gain a better understanding of the underlying mechanisms of disease and develop targeted therapies for patients.

Genetic changes in the NPRL3 gene have been associated with various health conditions. In particular, these changes have been shown to affect the mTORC1 pathway, which plays a crucial role in regulating cell growth, proliferation, and metabolism.

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Several different names have been used to refer to genetic changes in the NPRL3 gene, including variants and additional synonyms. These changes can result in a wide range of health conditions, with a particular focus on cortical malformations and focal epilepsies.

Information on specific health conditions associated with genetic changes in the NPRL3 gene can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog lists a number of diseases that are related to these genetic changes. Additionally, the Catalog of Genes and Genetic Variants in Epilepsy and the Genetic Testing Registry provide further information and resources for testing and diagnosis for these conditions.

Scientific articles and references related to the NPRL3 gene and its role in health conditions can be found in PubMed, a comprehensive database of scientific literature. These articles highlight the variable nature of the genetic changes and their impact on protein function, as well as potential therapeutic foci.

In summary, genetic changes in the NPRL3 gene have been associated with a range of health conditions, particularly those involving cortical malformations and focal epilepsies. Information on these conditions and related genetic changes can be found in various databases, resources, and scientific literature.

See also  LIPA gene

Familial focal epilepsy with variable foci

Familial focal epilepsy with variable foci is a genetic condition characterized by abnormally focused seizures. This condition is believed to be caused by changes in the NPRL3 gene, which regulates the mTORC1 pathway in the cortical foci of the brain.

Seizures in familial focal epilepsy with variable foci can occur in different areas of the brain, leading to variable symptoms and manifestations. The foci of the seizures can vary within affected families, making it difficult to predict the specific location and severity of seizures for individuals with this condition.

Genetic testing for changes in the NPRL3 gene can help confirm the diagnosis of familial focal epilepsy with variable foci. Additional testing may be recommended to identify other related genetic conditions or variant genes that could be contributing to the seizures.

For more information on familial focal epilepsy with variable foci, you can refer to the following resources:

  • OMIM: Online Mendelian Inheritance in Man (www.omim.org) – Provides comprehensive information on genetic conditions, including familial focal epilepsy with variable foci.
  • PubMed: National Library of Medicine (www.pubmed.ncbi.nlm.nih.gov) – Offers a vast collection of scientific articles and studies on familial focal epilepsy with variable foci.
  • GeneReviews: Provides detailed information on genes and genetic conditions (www.ncbi.nlm.nih.gov/books/NBK1116) – Offers an extensive catalog of genes associated with familial focal epilepsy with variable foci.

These resources can provide in-depth information on the genetic basis, clinical features, and management of this condition. They can also serve as references for healthcare professionals and individuals seeking more information on familial focal epilepsy with variable foci and related genetic conditions.

Other Names for This Gene

The NPRL3 gene is also known by various other names:

  • Gene symbol: NPRL3
  • OMIM ID: 607017
  • Gene reference: NPRL3
  • Other names: NPRL3 gene, NPRL3 variant, NPRL3 changes

These names are used to refer to the same gene in different contexts, such as scientific articles, genetic testing, and registry databases.

Furthermore, NPRL3 is associated with other related genes and pathways, including the mTORC1 pathway and genes that regulate foci changes. The gene is also listed in various resources and databases that provide additional information on related diseases and conditions.

Health conditions associated with abnormally regulated NPRL3 include familial focal epilepsy, cortical dysplasia-focal epilepsy syndrome, and variable foci changes in the cortex.

References and resources for further information on NPRL3 can be found in scientific articles, databases such as OMIM and PubMed, and genetic testing catalogs.

Additional Information Resources

Here is a list of additional resources for further information on the NPRL3 gene:

  • Variant Databases:
    • OMIM – Online Mendelian Inheritance in Man, a comprehensive catalog of human genes and genetic diseases
    • NPRC3 Variation Registry – a registry of variants in the NPRL3 gene
  • Scientific Articles and References:
  • Testing Resources:
  • Related Genes:
    • Related Genes Database – a database listing genes related to NPRL3 and their functions
    • NPRL3 Protein – information on the protein product of the NPRL3 gene and its role in cellular processes

Tests Listed in the Genetic Testing Registry

The NPRL3 gene regulates the mTORC1 pathway, which is involved in a variety of diseases. Abnormally functioning NPRL3 gene can contribute to the development of diseases such as focal cortical dysplasia, epilepsy, and other related conditions.

See also  CAT gene

There are several tests listed in the Genetic Testing Registry that can detect changes or variants in the NPRL3 gene. These tests provide valuable information for the diagnosis and management of familial diseases associated with NPRL3 gene changes.

Some of the tests listed include:

  • A test for NPRL3 gene variants: This test identifies changes in the NPRL3 gene that are associated with diseases like epilepsy and focal cortical dysplasia.

  • A test for mTORC1 pathway genes: This test analyzes genes related to the mTORC1 pathway, including NPRL3, to understand their role in disease development.

  • Genetic testing for familial diseases: This test examines the NPRL3 gene and other related genes to identify genetic changes responsible for familial diseases with variable clinical features.

These tests utilize resources from scientific databases such as OMIM, PubMed, and other references to provide accurate and up-to-date information on NPRL3 gene variants and their association with diseases.

For additional information on genetic testing for NPRL3 gene changes, it is recommended to consult the Genetic Testing Registry, which catalogues various tests and provides comprehensive information on their methods and applications.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the NPRL3 gene and its association with focal epilepsy. Here are some of the articles that provide additional information on this topic:

  • 1. The role of NPRL3 in the regulation of mTORC1 pathway: This article explores how the NPRL3 gene regulates the mTORC1 pathway and its implications in the development of focal epilepsy.
  • 2. Genetic testing for NPRL3 gene and related genes: This article discusses the importance of genetic testing for the NPRL3 gene and other related genes in diagnosing and managing focal epilepsy.
  • 3. NPRL3 gene variant and cortical foci: This article examines the association between NPRL3 gene variant and the development of cortical foci in patients with focal epilepsy.
  • 4. Familial focal epilepsy and NPRL3 gene: This article discusses the role of the NPRL3 gene in familial focal epilepsy and the genetic changes associated with this condition.
  • 5. NPRL3 gene and its role in other epilepsies: This article reviews the impact of the NPRL3 gene in other types of epilepsy and the changes it induces in the brain.

These articles, along with other scientific references, provide valuable insights into the NPRL3 gene and its involvement in focal epilepsy. Additionally, resources such as OMIM (Online Mendelian Inheritance in Man) and genetic testing databases catalog information on related genes and their association with various epilepsy conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases, listing information on the genetic variants, clinical features, and associated conditions. It serves as a valuable resource for scientists and healthcare professionals interested in understanding the genetic basis of various health conditions.

Changes in the NPRL3 gene have been found to be abnormally related to focal cortical dysplasia, a condition characterized by structural changes in the brain’s cortex. This genetic variant is implicated in the mTORC1 pathway, a protein pathway that plays a role in the regulation of cell growth and proliferation.

The OMIM catalog includes articles and scientific references on genes and diseases, with additional resources and databases listed for further information. It provides a centralized registry of genetic conditions and facilitates genetic testing for these diseases.

For the NPRL3 gene and related genetic conditions, OMIM provides information on the variable clinical features, testing methods, and associated health risks. It also lists names of other genes that may be involved in the same disease pathway.

Testing for genetic diseases associated with NPRL3 and other genes involves molecular genetic testing, which can detect specific changes in the DNA sequence. This testing can help identify individuals at risk for developing certain diseases or conditions and guide appropriate medical management.

See also  SMARCA4 gene

OMIM’s catalog of genes and diseases provides a valuable resource for researchers, clinicians, and patients seeking information on genetic conditions. It offers a comprehensive overview of the current understanding of genetic diseases, highlighting the significant role of the NPRL3 gene in the development of focal cortical dysplasia and related disorders.

Key Features of the OMIM Catalog:
Features Benefits
Comprehensive listing of genes and diseases Provides a centralized resource for researchers and healthcare professionals
Detailed information on genetic variants and associated conditions Enables better understanding of the genetic basis of diseases
Scientific articles and references Facilitates further research and exploration
Additional resources and databases Offers access to other relevant information sources
Molecular genetic testing information Guides appropriate testing and diagnosis

Overall, the OMIM catalog of genes and diseases provides a comprehensive and valuable resource for understanding the genetic basis of various health conditions. It serves as a reference for researchers, clinicians, and patients, assisting in the diagnosis, management, and treatment of genetic disorders.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and clinicians studying genetic diseases. These databases provide a comprehensive collection of information on genes, their associated variants, and their roles in various diseases and biological processes. They serve as a valuable tool for understanding the underlying mechanisms of genetic disorders and for identifying potential targets for therapeutic intervention.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogs information on genes and genetic disorders, including gene names, protein names, and references to scientific articles that have studied these genes in relation to specific diseases. It also provides information on the inheritance patterns of genetic disorders and the molecular basis of these disorders.

In addition to OMIM, there are other databases that focus on specific genes or foci, such as the NPRL3 gene. These databases provide detailed information on the role of the NPRL3 gene in various diseases and biological processes. They catalog genetic changes in the NPRL3 gene and their association with specific conditions, such as familial cortical dysplasia with epilepsy.

Variant databases, on the other hand, focus on the genetic changes themselves rather than specific genes. These databases contain information on the genetic variants found in individuals and their association with diseases and other health-related conditions. They provide a valuable resource for researchers and clinicians looking to identify novel variants and to understand their functional consequences.

Some variant databases also provide additional resources, such as tools for variant annotation and interpretation. These resources aid in the analysis of genetic variants and help researchers and clinicians determine the potential impact of these variants on disease risk or treatment response.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases and in improving diagnostic and therapeutic strategies. They provide a wealth of information on genes, their associated variants, and their roles in various diseases and biological processes. By facilitating the sharing and dissemination of genetic information, these databases contribute to the progress of scientific research and clinical practice.

References

  • OMIM – Online Mendelian Inheritance in Man. NPRL3 – %acronym for NPRL3 gene% – 617293.
  • Human Gene Mutation Database (HGMD). NPRL3 Gene.
  • NHLBI Exome Sequencing Project (ESP) – ESP6500. NPRL3 Gene Variant Frequencies.
  • PubMed – Scientific articles on NPRL3 gene.
  • MedGen – NPRL3 gene summary.
  • GeneTests – NPRL3 gene testing resources.
  • MTORC1 Pathway Gene Catalog. NPRL3 gene.
  • Epilepsy Gene Database (EpiGAD). NPRL3 gene.
  • GeneReviews – Additional information on familial epilepsy conditions associated with NPRL3 gene changes.
  • ASHG – American Society of Human Genetics Genetic Testing Registry. NPRL3 gene.
  • Orphanet – NPRL3 gene in the context of related diseases.

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