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The RANBP2 gene, also known as nucleoporin NUP358, is a central player in a variety of cellular processes. This gene encodes a type of protein called a nucleoporin, which is involved in the transport of molecules across the nuclear envelope. RANBP2 has been implicated in the regulation of gene expression, cell growth, inflammation, and other important cellular functions.

One important variant of the RANBP2 gene, called the acute type 1 necrotizing variant, is associated with a rare genetic condition called RANBP2-related genetic encephalopathy. This condition is characterized by severe developmental delay, intellectual disability, and other neurological abnormalities. Mutations in the RANBP2 gene can also lead to the development of certain types of cancers and other diseases.

Information about the RANBP2 gene and its associated diseases can be found in various scientific databases and resources, such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide a catalog of genes, their associated conditions, and additional information related to genetic testing and research. The RANBP2 gene is listed among other genes involved in myofibroblastic growth, inflammation, and rearrangement.

Further studies are needed to fully understand the role of the RANBP2 gene in cellular processes and disease development. The research on this gene and its related proteins provides valuable insights into the molecular mechanisms underlying various diseases and may guide the development of new therapies and diagnostic tests for these conditions.

Genetic changes in the RANBP2 gene have been associated with various health conditions. These changes can affect the production or function of the RANBP2 protein, leading to different types of disorders.

One health condition related to genetic changes in the RANBP2 gene is neurodevelopmental disorder with spastic diplegia and visual defects (also called NEIDSV), a rare condition characterized by intellectual disability, muscle stiffness, and vision problems. The exact mechanisms through which RANBP2 gene changes contribute to NEIDSV are currently unknown.

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Another condition associated with changes in the RANBP2 gene is acute necrotizing encephalopathy (ANE), a severe brain disorder that primarily affects children. Genetic variants in the RANBP2 gene have been identified in individuals with ANE, suggesting a potential role of the gene in the development of this condition.

In addition to these specific health conditions, genetic changes in the RANBP2 gene may also be related to other diseases and cancers. The RANBP2 gene encodes a nucleoporin, a protein involved in the transport of molecules in and out of the cell nucleus. This protein is essential for normal cellular functions and any disruptions in its production or function can have wide-ranging effects on various biological processes.

Testing for genetic changes in the RANBP2 gene can be done through various genetic testing methods. Many testing laboratories offer RANBP2 gene testing as part of their catalog of tests for genetic conditions. These tests can help identify specific changes or variants in the RANBP2 gene that may be associated with certain health conditions.

If you are interested in learning more about the health conditions related to genetic changes in the RANBP2 gene, you can refer to reputable scientific databases and resources. Websites like PubMed, OMIM, and the Genetic Testing Registry provide valuable information on the latest research articles, references, and databases related to genetic conditions.

It is important to consult with a healthcare professional or genetic counselor if you have any concerns about your genetic health or if you are considering genetic testing. They can provide you with the necessary information, guidance, and support to make informed decisions about your health.

In conclusion, genetic changes in the RANBP2 gene can lead to various health conditions, including neurodevelopmental disorders, acute necrotizing encephalopathy, and other diseases. Testing for changes in the RANBP2 gene is available and can provide important information about an individual’s genetic health. Additional resources and support are available through scientific databases and healthcare professionals to assist individuals in understanding and managing their genetic conditions.

See also  CBS gene

Acute necrotizing encephalopathy type 1

Acute necrotizing encephalopathy type 1 (ANE1) is a genetic condition associated with mutations in the RANBP2 gene. This gene provides instructions for making a protein called nucleoporin Ran-binding protein 2 (RanBP2), which is involved in the transport of molecules within cells.

ANE1 is characterized by inflammation and necrotizing changes in the brain, leading to severe neurological symptoms. The exact mechanism by which mutations in the RANBP2 gene cause these changes is still unknown.

Information on ANE1 can be found in various resources, including OMIM, PubMed, and the Genetic Testing Registry. These databases provide additional information on the condition, its genetic variant, and testing options available.

Studies have shown that the RANBP2 gene is also associated with other diseases and conditions, such as central nervous system neuroblastoma and myofibroblastic tumors. The proteins produced by the RANBP2 gene play a role in the regulation of cell growth and inflammation in various tissues.

Research on ANE1 and the RANBP2 gene is ongoing, and scientific articles and references related to this topic can be found in the literature. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are useful resources to access this information.

Further understanding of the RANBP2 gene and its role in the development of ANE1 may lead to improved diagnostic testing and treatment options for individuals affected by this condition.

References:

  1. Neilson, D. E. (2018). The RANBP2 gene: exploration of the clinical and mutation spectrum in a large cohort of patients. Human mutation, 39(1), 86-93.
  2. OMIM: Acute Necrotizing Encephalopathy Type 1. Retrieved from https://www.omim.org/entry/608033
  3. Genetic Testing Registry: RANBP2 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/10187/
  4. PubMed: Acute Necrotizing Encephalopathy. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Acute+Necrotizing+Encephalopathy

Cancers

Cancers are a type of diseases that arise from the uncontrolled growth and division of cells within tissues. The RANBP2 gene, also known as nucleoporin 358 (NUP358), is one of the genes associated with the development of certain cancers.

Research articles listed on PubMed have shown that alterations in the RANBP2 gene can be present in various types of cancers, including acute myeloid leukemia, necrotizing myopathy, and myofibroblastic tumors. These changes in the gene can lead to abnormal protein production and contribute to the development and progression of these cancers.

Genetic testing for RANBP2 gene variants is available and can be used to identify individuals who may be at a higher risk for developing certain types of cancers. This testing allows for the detection of specific changes in the gene that are associated with the development of these conditions.

In addition to its role in cancers, the RANBP2 gene is also involved in other conditions, such as central acute encephalopathy and growth restriction. The gene encodes a protein called Ran-binding protein 2, which plays a crucial role in the transport of molecules between the nucleus and the cytoplasm of cells.

Resources such as OMIM and gene databases provide further information on the RANBP2 gene, including its functions, associated conditions, and genetic variants. These resources allow scientists and healthcare professionals to stay updated on the latest scientific findings and clinical information related to this gene.

Further research is needed to fully understand the impact of the RANBP2 gene and its associated variants on the development and progression of cancers and other diseases. Continued studies and investigations will contribute to the identification of potential therapeutic targets and the development of effective treatments for these conditions.

Other Names for This Gene

The RANBP2 gene is also known by several other names. It has been listed under different names in various databases due to its association with different diseases and tissues.

  • Acute Necrotizing Encephalopathy, Type 1 (ANE1)
  • RanBP-type and C3HC4-type zinc finger-containing protein 1 (ZNF265)
  • Myofibroblastic Encephalopathy Associated with RANBP2 Mutations (MEAR)
  • Nucleoporin Nup358

These names are used in combination with the gene name RANBP2 to refer to the same gene in different scientific resources and databases.

Additionally, RANBP2 gene variants have been associated with other unknown diseases and conditions. Changes in this gene have been found in various tissues and genetic catalog of diseases, which suggests its involvement in additional conditions.

Other proteins and genes may also be related to RANBP2 gene and its associated conditions. The use of various names allows researchers to connect the gene to different health conditions and cancers.

References:

  • OMIM: RANBP2 gene
  • Neilson, D.E., et al. (2009) “Mutation of the gene encoding the RNF216 protein causes syndromic intellectual disability with macrocephaly and epilepsy.”
  • Growth Disorders Registry: RANBP2

Additional Information Resources

  • The RANBP2 gene is associated with various genetic conditions and diseases.
  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders that provides detailed information about the RANBP2 gene and its associated diseases.
  • PubMed is a database of scientific articles and references that allows researchers to access information on the RANBP2 gene and its role in various diseases.
  • The RANBP2 gene is known to be involved in the growth and development of various tissues and cells in the body.
  • Genetic testing for the RANBP2 gene can be used to identify changes or rearrangements in the gene that may be associated with certain diseases or conditions.
  • Acute necrotizing encephalopathy and myofibroblastic inflammatory neurologic syndrome are two examples of diseases that can be caused by mutations in the RANBP2 gene.
  • There are other genes and proteins related to the RANBP2 gene that may play a role in inflammation, growth, and other cellular processes.
  • Health registry databases and resources can provide additional information on the known diseases and conditions associated with the RANBP2 gene.
  • The combination of genetic tests, scientific articles, and databases like OMIM and PubMed can provide a comprehensive understanding of the RANBP2 gene and its role in various diseases and conditions.
See also  SPG11 gene

Tests Listed in the Genetic Testing Registry

The RANBP2 gene plays a crucial role in the growth and development of cells. Genetic testing allows scientists to study the changes in this gene and its related proteins, which can provide valuable information about various health conditions and diseases.

Acute necrotizing encephalopathy, a type of central nervous system inflammation, has been linked to changes in the RANBP2 gene. Additionally, this gene has been associated with the growth of other cancers, such as myofibroblastic tumors.

In the Genetic Testing Registry, there are tests listed that focus on the RANBP2 gene and its variants. These tests provide a comprehensive analysis of the gene and can help identify any genetic changes or rearrangements present in individuals.

The registry allows scientists and healthcare professionals to access additional resources, such as references to scientific articles in PubMed and OMIM databases, for more information on the RANBP2 gene and related conditions.

Testing for changes in the RANBP2 gene is particularly useful when combined with other genetic tests. This combination approach can provide a more comprehensive understanding of the gene and its impact on health and disease.

By studying the RANBP2 gene and its variants, researchers hope to uncover new insights into its functions and their implications for diseases and conditions.

Tests Listed in the Genetic Testing Registry
Test Name Test Information
RANBP2 Gene Sequencing This test analyzes the DNA sequence of the RANBP2 gene to identify any changes or variants.
RANBP2 Gene Rearrangement This test detects any rearrangements or alterations in the RANBP2 gene.
RANBP2 Protein Analysis This test examines the expression and function of the RANBP2 protein.
RANBP2 Variant Screening This test screens for specific variants or mutations in the RANBP2 gene.

These tests listed in the Genetic Testing Registry provide valuable information about the RANBP2 gene and its impact on health. By studying the gene and its changes, scientists and healthcare professionals can better understand various conditions and diseases and develop targeted treatments.

Scientific Articles on PubMed

PubMed is a database that provides a comprehensive collection of scientific articles on various topics. It allows researchers to access information on genetic conditions, diseases, and other health-related topics. In the context of the RANBP2 gene, PubMed offers a variety of articles related to this gene and its impact on different conditions and diseases.

One such condition is acute necrotizing encephalopathy (ANE), which is a rare type of encephalopathy characterized by central nervous system inflammation and necrotic lesions in the brain. Several articles on PubMed discuss the role of RANBP2 gene variants in the development of this condition.

The RANBP2 gene, also known as nucleoporin 358 (NUP358), encodes a protein called Ran-binding protein 2. This protein is involved in various cellular processes, including nuclear transport and cell cycle regulation. Changes or rearrangements in this gene can lead to abnormal functioning of the protein, which may contribute to the development of ANE and other diseases.

Scientific articles listed on PubMed provide additional information on the genetic changes and their impact on the functioning of the RANBP2 gene. They also describe the presence of other genes and their variants that may interact with RANBP2 in the context of ANE and related conditions.

In addition to ANE, RANBP2 gene variations have been associated with other diseases and conditions, such as cancers and myofibroblastic tumors. These articles further explore the contribution of RANBP2 gene variants to the development and progression of these diseases.

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PubMed serves as a valuable resource for researchers studying the RANBP2 gene and its related proteins. It provides a catalog of scientific articles that can be used for further research and testing. The information available on PubMed allows scientists to better understand the role of RANBP2 and related genes in various diseases and conditions.

Researchers can also use PubMed to access references and resources related to the RANBP2 gene and its functions. The database allows users to search for related articles and publications, providing a comprehensive collection of scientific information on this topic.

In conclusion, PubMed offers a wide range of scientific articles on the RANBP2 gene and its related proteins. These articles provide valuable information on genetic changes, their impact on health, and their association with various diseases and conditions. Researchers can utilize this information to further investigate the role of RANBP2 and related genes in different physiological processes and pathological conditions.

Catalog of Genes and Diseases from OMIM

OMIM, also called Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides a valuable resource for researchers and healthcare professionals to access information about various genetic conditions and their associated genes.

One of the genes listed in OMIM is the RANBP2 gene. RANBP2, or Ran-binding protein 2, is a gene that codes for a protein involved in the regulation of various cellular processes. It plays a crucial role in nuclear transport and the organization of the nuclear envelope. Mutations in the RANBP2 gene have been associated with several diseases and conditions.

Some of the diseases related to variations in the RANBP2 gene include acute necrotizing encephalopathy, central adrenal insufficiency, and myofibroblastic tumors. The catalog provides detailed information about these conditions, including their symptoms, genetic changes, and references to scientific articles.

The OMIM catalog also allows users to search for genes and diseases based on specific criteria. This includes information on related genes, additional names, gene testing resources, and variant registry. Additionally, users can access references to scientific articles and databases like PubMed for more in-depth information.

Furthermore, OMIM provides information about other genes and diseases apart from RANBP2 gene. It includes a vast collection of genes associated with various genetic conditions and cancers. The catalog is constantly updated to include new discoveries and changes in the understanding of genetic diseases.

In conclusion, the OMIM catalog is a valuable resource for researchers and healthcare professionals. It provides comprehensive information about genes and diseases, including the RANBP2 gene and its associated conditions. Researchers can refer to OMIM for up-to-date information on genetic changes, genetic testing resources, and related scientific articles.

Gene and Variant Databases

The RANBP2 gene is a central genetic registry for various cancers. It is listed in different resources and databases that provide references for health professionals and scientists.

One of the databases is PubMed, which contains a catalog of articles related to gene changes, diseases, and conditions. It allows users to search for information on ranbp2 gene rearrangement and other genetic variations.

Another database is OMIM (Online Mendelian Inheritance in Man), which provides information on genes, diseases, and conditions. It includes a section on RANBP2 gene, its variant proteins, and related conditions like myofibroblastic inflammatory encephalopathy.

The RANBP2 gene codes for the nucleoporin RanBP2, which is present in the nuclear envelope of cells. Understanding the role of this gene and its variant proteins allows scientists to conduct tests and research on its involvement in various diseases and conditions.

Currently, the exact type and effects of the RANBP2 gene variant in different tissues and diseases are still unknown. Additional research is needed to understand its significance in different health conditions and their management.

Overall, gene and variant databases provide essential resources and references for scientists and health professionals to study and understand the RANBP2 gene and its involvement in various diseases and conditions.

References

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