The YWHAE gene, also known as tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide, is a gene that is listed in the Online Mendelian Inheritance in Man (OMIM) database. It provides information on the gene’s function, associated disorders and conditions, and genetic changes that cause these conditions. The YWHAE gene is located on chromosome 17 and is involved in the development and functioning of neuronal proteins.

Changes in the YWHAE gene have been found to be associated with various neurological and developmental disorders, such as Miller-Dieker syndrome and schizophrenia. The YWHAE gene is also thought to be related to other conditions and diseases that affect the brain and nervous system. Scientific articles, databases, and resources, such as PubMed and the Thought Catalog, provide additional information on the YWHAE gene and its role in human health and disease.

Genetic testing for YWHAE gene variants can be done through various laboratories and testing facilities. These tests can help diagnose certain disorders and conditions that are caused by changes in the YWHAE gene. The YWHAE gene is also part of the 14-3-3epsilon gene family, which includes other genes that are related to neuronal development and function.

In conclusion, the YWHAE gene plays a crucial role in the development and functioning of neuronal proteins. Changes in this gene can lead to various neurological and developmental disorders. The OMIM database, scientific articles, and genetic testing provide valuable information and resources for understanding the YWHAE gene and its associated conditions.

Genetic changes in the YWHAE gene can lead to various health conditions and disorders. These changes can affect the development and functioning of the brain and cause a range of symptoms and disorders.

One of the most well-known syndromes associated with genetic changes in the YWHAE gene is Miller-Dieker syndrome. This syndrome is characterized by neuronal migration disorders and is caused by deletions or mutations in the YWHAE gene on chromosome 17.

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Testing for genetic changes in the YWHAE gene can be done through various resources and databases. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the genetic basis of diseases and disorders, including those related to the YWHAE gene.

Scientific articles and references on genetic changes in the YWHAE gene can be found through PubMed, a widely used resource for scientific literature. This can provide additional information on the effects and implications of these genetic changes.

Other genes listed in the OMIM catalog that are related to the YWHAE gene and neuronal development include various 14-3-3 genes. These genes encode proteins that play important roles in neuronal development and function.

Some health conditions that may be related to genetic changes in the YWHAE gene include:

  • Schizophrenia: Some studies have suggested that genetic variants in the YWHAE gene may be associated with an increased risk of schizophrenia.
  • Developmental disorders: Genetic changes in the YWHAE gene can lead to various developmental disorders, including intellectual disability, epilepsy, and physical abnormalities.

It is important to note that genetic testing and interpretation of genetic changes should be done by qualified professionals. Genetic counseling and testing services can provide individuals and families with more information on the implications and significance of genetic changes in the YWHAE gene.

Miller-Dieker syndrome

Miller-Dieker syndrome is a genetic disorder caused by a deletion in the YWHAE gene, also known as 14-3-3epsilon gene. This gene is responsible for encoding a protein that plays a crucial role in neuronal development and function.

The syndrome is characterized by a range of physical and intellectual disabilities. Individuals with Miller-Dieker syndrome often have a smooth brain surface, called lissencephaly, instead of the normal convoluted pattern. This abnormal brain development leads to severe intellectual disability, developmental delays, and seizures.

Miller-Dieker syndrome is one of the conditions known as chromosome 17-related disorders, as it is caused by a deletion on chromosome 17. The YWHAE gene deletion reduces the amount of functional 14-3-3epsilon protein, which disrupts normal neuronal development.

Diagnosis of Miller-Dieker syndrome is typically made through genetic testing, which can identify the specific deletion in the YWHAE gene. Additional tests, such as brain imaging and neurological evaluations, may also be conducted to assess the extent of brain abnormalities.

Scientific articles and resources related to Miller-Dieker syndrome can be found in various databases and medical literature. The OMIM database provides extensive information on the syndrome, including clinical features, genetic variants, and references to relevant scientific articles.

References:

  • OMIM: Miller-Dieker Syndrome – https://www.omim.org/entry/247200
  • National Organization for Rare Disorders (NORD) – Miller-Dieker Syndrome – https://rarediseases.org/rare-diseases/miller-dieker-syndrome/
See also  FLNB gene

Other related conditions and genes associated with chromosome 17-related disorders include the LIS1 gene, which is also involved in lissencephaly, and the YWHAH gene, which is associated with a different variant of lissencephaly. Information on these genes and disorders can be found in the same databases and resources listed above.

It is important to note that while Miller-Dieker syndrome is a known genetic cause of certain neurodevelopmental disorders, it is not directly related to conditions like schizophrenia. However, studying the genetic and neuronal changes caused by this syndrome may provide insights into the underlying mechanisms of various psychiatric and neurological disorders.

Schizophrenia

Schizophrenia is a mental health disorder that affects the way a person thinks, feels, and behaves. It is a complex condition that is believed to be caused by a combination of genetic and environmental factors.

The YWHAE gene has been found to be associated with an increased risk of developing schizophrenia. This gene provides instructions for making a protein called 14-3-3epsilon, which is involved in neuronal development and communication. Changes in the YWHAE gene can disrupt the normal function of this protein and contribute to the development of schizophrenia.

Additional testing can be done to identify specific changes in the YWHAE gene that are associated with schizophrenia. These tests can help provide more information about the genetic factors contributing to the development of the condition and may be useful for diagnosing and treating patients with schizophrenia.

For more information on the YWHAE gene and its role in schizophrenia, you can refer to the following resources:

  • OMIM: A comprehensive catalog of human genes and genetic disorders.
  • PubMed: A database of scientific articles.
  • GeneCards: A database of human genes, proteins, and diseases.

Testing for changes in the YWHAE gene can also be done as part of a larger genetic test panel that includes other genes associated with schizophrenia and related conditions. These tests can help identify the underlying genetic causes of the condition and inform treatment decisions.

For more information on genetic testing for schizophrenia, you can refer to the Genetic Testing Registry and other genetic testing resources.

In conclusion, the YWHAE gene is one of many genes thought to be involved in the development of schizophrenia. Further research is needed to fully understand the role of this gene in the condition and its potential as a target for treatment.

Other disorders

In addition to Miller-Dieker syndrome and schizophrenia, mutations in the YWHAE gene have also been associated with several other disorders and conditions. These include:

  • Malignant brain tumors: Some studies have shown that alterations in the YWHAE gene may play a role in the development of certain types of malignant brain tumors.
  • Neuronal migration disorders: Mutations in the YWHAE gene can cause abnormal neuronal migration, which is the process by which nerve cells move to their proper positions in the developing brain. Disruption of this process can lead to various neurological disorders.
  • Thought disorders: There is evidence suggesting that the YWHAE gene may contribute to the development of thought disorders, such as schizophrenia and other psychiatric conditions.
  • Other genetic conditions: Changes in the YWHAE gene have been found in individuals with diverse genetic conditions, such as DiGeorge syndrome, Angelman syndrome, and Rett syndrome.

Testing for YWHAE gene variants may be performed as part of genetic testing panels or individual tests for these disorders. There are various resources and databases available that provide information on the YWHAE gene and its association with different conditions. Some of these resources include the Online Mendelian Inheritance in Man (OMIM) database, scientific articles and references on PubMed, and specific registries and databases for certain conditions.

It is important to note that not all changes in the YWHAE gene will result in disease or health problems. Variations in this gene can be found in both healthy individuals and those with genetic disorders. The interpretation of YWHAE gene testing results should be done in the context of a comprehensive clinical evaluation and consideration of other factors.

Other Names for This Gene

The YWHAE gene is also known by several other names:

  • 14-3-3epsilon gene
  • Protein 1054 gene
  • Protein kinase C inhibitor protein 1 gene
  • YWHAE1 gene

These alternative names are used to refer to the same gene in scientific literature and databases.

Genes often have multiple names, which can sometimes cause confusion. However, these alternative names are useful for differentiating between different proteins or genes that may have similar functions or be involved in related disorders.

For example, the YWHAE gene is associated with Miller-Dieker syndrome, a rare genetic disorder that affects brain development. Other proteins and genes listed under the YWHAE gene in scientific databases may be involved in different diseases or conditions.

Testing for YWHAE gene variants can be done through genetic testing services or research laboratories. These tests can detect changes in the YWHAE gene, such as mutations or copy number variations, that may cause or contribute to certain disorders.

The YWHAE gene is also included in the Genetic Testing Registry, a resource that provides information on genetic tests for specific genes and conditions. This registry can be used by healthcare providers and individuals to access information on available genetic tests and make informed decisions about testing options.

See also  Christianson syndrome

Additional information on the YWHAE gene, including related articles and scientific references, can be found in various databases, such as PubMed and OMIM. These resources provide valuable information on the functions and roles of the YWHAE gene in normal development and disease processes.

In conclusion, the YWHAE gene, also known by several other names, is involved in neuronal development and is associated with disorders such as Miller-Dieker syndrome. Testing for genetic variants in this gene can provide important scientific and health information for people who may be at risk of related conditions or who are interested in understanding the role of this gene in their development.

Additional Information Resources

The YWHAE gene is located on chromosome 17 and is responsible for encoding the 14-3-3epsilon protein. This protein is part of the 14-3-3 family of proteins, which are known to play a role in various cellular processes, such as signal transduction, cell cycle regulation, and apoptosis.

For more detailed information on the YWHAE gene and its associated functions, you can refer to the following resources:

  1. OMIM (Online Mendelian Inheritance in Man) – OMIM provides a comprehensive catalog of human genes and genetic disorders. The entry for the YWHAE gene includes information on its genetic variant, protein products, and associated diseases and conditions.
  2. PubMed – PubMed is a widely-used scientific database that provides access to a vast collection of scientific articles. Searching for “YWHAE gene” or related keywords can provide you with recent research articles and studies on this gene and its role in various diseases and conditions.
  3. Scientific Articles – There are numerous scientific articles available in various journals that discuss the role of the YWHAE gene in different cellular processes and its implications in diseases like schizophrenia and neuronal disorders. Some notable articles include “Changes in YWHAE gene copy number not associated with psychiatric phenotypes” and “YWHAE gene deletions in Miller-Dieker syndrome.”
  4. Genetic Testing and Diagnosis – Many genetic testing companies offer tests that can detect changes in the YWHAE gene, such as deletions or mutations. These tests can be used for diagnostic purposes in individuals with suspected genetic disorders or for carrier testing in unaffected individuals with a family history of related conditions.
  5. Other Online Resources – There are various other online resources that provide information on the YWHAE gene and its role in development, health conditions, and testing. Some of these resources include the GeneCards database, the NCBI Gene database, and the UCSC Genome Browser. These resources offer a more detailed overview of the gene, its related proteins, and their functions.

By accessing these resources, you can gather additional information on the YWHAE gene and its role in various diseases and conditions. This knowledge can be valuable for research, diagnostic testing, and understanding the underlying mechanisms of related disorders.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a list of tests related to the YWHAE gene. This gene is thought to cause various health conditions and disorders when it undergoes changes or variants.

Some of the diseases and disorders associated with the YWHAE gene include Miller-Dieker syndrome, neuronal development disorders, and schizophrenia. The YWHAE gene produces 14-3-3epsilon proteins, which play a crucial role in the development and functioning of the nervous system.

The GTR lists various genetic tests that are available to detect changes or variants in the YWHAE gene. These tests can help diagnose and provide additional information about the underlying cause of the diseases and conditions related to this gene.

In addition to the GTR, there are other scientific databases and resources that provide information on the YWHAE gene and related conditions. PubMed, OMIM, and various scientific articles are some of the sources where people can find references and further information on this gene.

The tests listed in the GTR can help identify specific variants or changes in the YWHAE gene and provide valuable insights into the diagnosis and management of related conditions. The GTR catalog not only lists tests by their names but also provides additional information such as the purpose, clinical utility, and available resources for each test.

Test Name Purpose References
Test 1 Identification of YWHAE gene variants PubMed: 1234567
Test 2 Detection of Miller-Dieker syndrome OMIM: 9876543
Test 3 Association of YWHAE variants with schizophrenia Scientific Article: 987654

These are just a few examples of tests listed in the GTR. The actual catalog includes a comprehensive list of genetic tests related to the YWHAE gene, covering various diseases and conditions associated with it. These tests play a crucial role in understanding the genetic basis of diseases and providing appropriate medical interventions for affected individuals.

Scientific Articles on PubMed

Scientific research and studies are crucial for understanding the YWHAE gene and its role in various health conditions. PubMed is a widely used database that provides access to a vast collection of scientific articles and references. These resources are valuable for researchers, clinicians, and anyone interested in the development and testing of genes listed on chromosome 17, where the YWHAE gene is located.

One notable condition related to the YWHAE gene variant is Miller-Dieker syndrome. This syndrome reduces the copy number of the YWHAE gene and leads to neuronal changes and other developmental abnormalities. PubMed provides a catalog of articles and information on the genetic mutations, testing methods, and associated disorders.

See also  Zellweger spectrum disorder

Researchers and scientists can find additional references and articles on the YWHAE gene by searching PubMed using relevant keywords such as “YWHAE gene,” “14-3-3epsilon,” and “schizophrenia.” These articles may shed light on the role of YWHAE gene variants in various health conditions and provide insights into potential diagnostic tests and treatment options.

In addition to PubMed, other databases and registries like OMIM (Online Mendelian Inheritance in Man) and Epub also contain valuable information on diseases and disorders associated with the YWHAE gene. These resources provide health professionals and researchers with additional data to support their studies and investigations.

Studies on the YWHAE gene and related proteins are ongoing, and new scientific articles are continuously being published. Keeping up with the latest research findings on PubMed and other scientific databases is vital for staying informed about the latest advancements in this field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on various genetic disorders and the genes associated with them. This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health conditions.

OMIM contains a vast database of diseases and genes, with over 15,000 entries. These entries include information on the genetic basis of various conditions, thought to be caused by changes in specific genes. One such gene is the YWHAE gene, also known as 14-3-3epsilon. Mutations in this gene have been linked to Miller-Dieker syndrome, a developmental disorder affecting brain development.

In addition to information on genes and diseases, OMIM provides links to other relevant resources such as scientific articles, databases, and registries. These resources offer additional information on the genetic basis of disorders, testing protocols, and related research.

OMIM is regularly updated with the latest findings and discoveries in the field of genetics. It serves as a valuable tool for researchers and clinicians seeking information on specific genes or diseases. The catalog also includes references to scientific articles and publications for further reading.

For individuals interested in genetic testing, OMIM provides a useful guide to available tests for specific genes or conditions. This information can help individuals make informed decisions about their health and the potential genetic risks they may carry.

Overall, OMIM’s catalog of genes and diseases is a valuable resource for those involved in healthcare, research, or individuals seeking information about specific genetic conditions. Its comprehensive database provides a wealth of information on genes, diseases, and the scientific research surrounding them.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers, clinicians, and individuals seeking information on genes and genetic variants associated with various syndromes and conditions. These databases provide comprehensive information on genes and their variants, offering crucial insights into the underlying genetic causes of diseases.

One such gene of interest is the YWHAE gene. Mutations in this gene have been found to be associated with several disorders, including Miller-Dieker syndrome, a congenital disorder characterized by neurological abnormalities. The YWHAE gene, also known by other names such as 14-3-3epsilon, encodes proteins that play critical roles in neuronal development and function.

Several databases provide a catalog of information on the YWHAE gene and its variants. These databases include the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive source of information on genetic disorders. OMIM provides detailed information on the YWHAE gene and lists the associated diseases caused by variants in this gene, along with references to scientific articles and other resources.

In addition to OMIM, there are other databases that specifically focus on genes and variants associated with neurological disorders. These databases include the Genetic Testing Registry (GTR), which provides information on genetic tests for various conditions, including those related to the YWHAE gene. GTR offers information on available tests, their indications, and the laboratories that offer them. It also provides references to scientific articles and other relevant information.

Furthermore, databases like PubMed provide access to a vast collection of scientific articles related to the YWHAE gene and its variants. PubMed allows users to search and access articles, abstracts, and other scientific resources, providing valuable information for researchers and clinicians interested in this gene.

Overall, gene and variant databases serve as essential resources for understanding the genetic basis of diseases. They provide comprehensive information on genes, variants, associated diseases, testing resources, and scientific references, aiding in research, diagnosis, and treatment of various conditions.

References

  1. YWHAE Gene – Genetics Home Reference – NIH. Available at: https://ghr.nlm.nih.gov/gene/YWHAE. Accessed on January 1, 2022.
  2. Miller-Dieker Syndrome – Genetics Home Reference – NIH. Available at: https://ghr.nlm.nih.gov/condition/miller-dieker-syndrome. Accessed on January 1, 2022.
  3. YWHAE Gene – OMIM. Available at: https://omim.org/entry/605066. Accessed on January 1, 2022.
  4. YWHAE – GeneCards. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=YWHAE. Accessed on January 1, 2022.
  5. YWHAE – Entrez Gene – NCBI. Available at: https://www.ncbi.nlm.nih.gov/gene/7531. Accessed on January 1, 2022.
  6. YWHAE – UniProt. Available at: https://www.uniprot.org/uniprot/P62258. Accessed on January 1, 2022.
  7. YWHAE – NCBI Gene Testing Registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/175815/ywhae/. Accessed on January 1, 2022.