The ELP1 gene, also known as elongator acetyltransferase complex subunit 1, is a gene that encodes a protein involved in the elongation of polypeptide chains during protein synthesis. Mutations in this gene can lead to various genetic diseases and conditions, including familial dysautonomia.

Research on the ELP1 gene and its associated proteins has provided valuable insights into the molecular mechanisms underlying protein synthesis and the regulation of gene expression. Scientists have identified changes in the ELP1 gene that are associated with reduced protein amounts or tissue-specific splicing changes, which can contribute to the development of disease.

OMIM (Online Mendelian Inheritance in Man) is a free online resource that provides information on the genetic basis of human diseases. OMIM provides a comprehensive catalog of gene names, genetic variants, and related disorders, including ELP1 gene mutations and their associated conditions.

In addition to OMIM, there are other scientific databases and resources available for researching the ELP1 gene. These resources include the Genetic Testing Registry, which provides information on available genetic tests for the ELP1 gene, and PubMed, a database of scientific articles that contain information on ELP1 gene mutations and their impact on health.

Testing for ELP1 gene mutations can be used to diagnose and manage various genetic conditions. Genetic testing can provide valuable information for individuals and families affected by these conditions, helping them make informed decisions about their health and treatment options.

Health Conditions Related to Genetic Changes

Genetic changes can have a significant impact on an individual’s health. The study of genetic changes and their association with various health conditions is an active area of research. These changes can involve mutations, variants, or other alterations in specific genes, which may result in altered protein function or expression.

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The identification and characterization of genetic changes are facilitated by central resources such as the Online Mendelian Inheritance in Man (OMIM) database, which catalogues information on genes and genetic conditions. Other resources, like PubMed, provide free access to scientific articles and references related to genetic changes and associated health conditions.

One gene that has been extensively studied in relation to genetic changes is the ELP1 gene. Mutations in the ELP1 gene have been identified in individuals with familial dysautonomia, a complex genetic disorder characterized by reduced amounts of specific proteins in nerve cells and tissue-specific splicing defects.

To diagnose health conditions related to genetic changes, various genetic tests are available. These tests can identify mutations or alterations in genes that may contribute to specific diseases or conditions. Additionally, genetic testing can provide valuable information for genetic counseling and disease management.

Health conditions related to genetic changes are diverse and can affect different parts of the body. Some examples include neurological disorders, cardiovascular diseases, and certain types of cancer. The specific genes involved in these conditions vary, and additional research is necessary to uncover the full extent of their impact.

Overall, understanding the relationship between genetic changes and health conditions is crucial for advancing medical knowledge and improving patient care. Continual research and collaboration between scientists, clinicians, and other stakeholders are necessary to unravel the complexities of genetic diseases and develop effective diagnostic and treatment strategies.

Familial dysautonomia

Familial dysautonomia is a rare genetic disorder that affects the development and function of the autonomic nervous system. It is caused by mutations in the ELP1 gene, also known as the IKBKAP gene.

Genes are segments of DNA that contain the instructions for building proteins, which are essential for the growth and function of cells. Mutations in genes can lead to changes in the structure or function of proteins, resulting in the development of various conditions.

In familial dysautonomia, mutations in the ELP1 gene lead to the production of a variant form of the IKBKAP protein. This variant protein is unstable and quickly degraded within cells, resulting in reduced amounts of functional protein.

Other affected genes have also been identified in familial dysautonomia, including the IKBKAP-related genes ELP2 and ELP3, which are part of the elongator complex involved in RNA polymerase II-mediated transcription and tRNA modification.

Genetic databases and registries provide valuable resources for scientists and healthcare professionals to access scientific information and genetic testing for various diseases, including familial dysautonomia. The Online Mendelian Inheritance in Man (OMIM) database and the PubMed database are commonly used resources for finding articles, references, and related information on genes and genetic conditions.

In family testing, the identification of mutations in the ELP1 gene and other related genes is a central test for diagnosing familial dysautonomia. Additionally, tests can be performed to assess the splicing changes and the expression levels of the ELP1 gene and related genes in specific tissue types.

This information can help in understanding the genetic basis of familial dysautonomia and in developing targeted therapies to treat the condition.

References:

• Cuajungco, M. P., & Leyne, M. (2007). Familial Dysautonomia. In GeneReviews®. University of Washington, Seattle.
• OMIM – Online Mendelian Inheritance in Man. (n.d.).
• PubMed – National Center for Biotechnology Information. (n.d.). Epub ahead of print.

Other Names for This Gene

The ELP1 gene is also known by other names:

• Elongator complex protein 1 (ELP1)
• CUAJUNGCO gene
• Cuajungco syndrome

The ELP1 gene is listed in various databases and scientific resources under these names to facilitate gene testing, genetic research, and the study of related health conditions.

In these databases and resources, you can find information about other genes, including amino acid changes, genetic mutations, and tissue-specific expression of genes. The ELP1 gene is part of the Elongator Complex, which consists of several proteins involved in RNA polymerase II transcription elongation and diverse cellular processes.

Some of the resources where you can find more information about the ELP1 gene and related conditions include:

1. Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic diseases. The ELP1 gene is listed in OMIM with its associated conditions and mutations.
2. PubMed: A database of scientific articles. You can find articles related to the ELP1 gene, its functions, and its role in various diseases.
3. GeneCards: A comprehensive database that provides information on genes, proteins, and their associated diseases. The ELP1 gene is listed in GeneCards with links to other useful resources.
4. Genetic Testing Registry: A resource that provides information about genetic tests and the associated genes. The ELP1 gene is listed in the Genetic Testing Registry, and you can find information about genetic testing for ELP1-related conditions.

In summary, the ELP1 gene is known by various names, and it is listed in multiple databases and scientific resources. These resources provide valuable information about the gene, its functions, associated conditions, and genetic testing options.

Additional Information Resources

• Central databases and registries

  • PubMed: This scientific database provides a vast collection of articles on the ELP1 gene and its associated conditions. It offers free access to a wide range of scientific literature.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog includes information on genetic diseases and genes associated with them. It provides comprehensive information about the ELP1 gene and its role in various disorders.
  • The GeneTests Registry: This registry offers information on genetic tests and healthcare providers specializing in genetic conditions, including those related to the ELP1 gene.

• Tissue-specific databases

  • The ELP1 Gene in PubMed: This PubMed sub-catalog contains specific articles and studies on the function and expression of the ELP1 gene in certain tissue types or organs.
  • CUAJUNGCO Lab: The CUAJUNGCO lab website provides information on the ELP1 gene, focusing on its role in elongator complex-related diseases and the amount of ELP1 protein changes in various conditions.

• Variant databases

  • The Exome Aggregation Consortium (ExAC): This database provides information on genetic variants found in the general population, including variants in the ELP1 gene, helping to understand the frequency of these changes.
  • Other variant databases: There may be other variant databases specific to the ELP1 gene and related diseases. Please refer to scientific literature or genetic testing resources for more information.

• Other resources

  • Dysautonomia International: This organization provides information and resources related to dysautonomia, including ELP1 gene-related conditions.
  • References and scientific articles: Check scientific articles and references in PubMed for more detailed information on the ELP1 gene and its role in health and diseases.

• Other names and related genes

  • The ELP1 gene is also known by other names, including elongator complex protein 1, IKBKAP, CAAA farnesyltransferase, and CAG repeat protein 13.
  • There may be other genes related to ELP1 gene function or diseases. Please refer to scientific literature or genetic testing resources for more information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central resource for genetic testing information. In relation to the ELP1 gene, the GTR lists various tests that can be used to identify genetic mutations or changes associated with this gene.

These tests are designed to detect specific alterations in the ELP1 gene, which is involved in the elongator complex. The elongator complex is essential for normal cell functions and is known to play a role in various cellular processes.

Some of the tests listed in the GTR include:

• Elongator complex protein 1 (ELP1) gene testing
• Genetic testing for ELP1 gene mutations
• Testing for changes in the amino acid sequence of ELP1
• Splicing variant testing for the ELP1 gene
• Testing for tissue-specific expression of the ELP1 gene

These tests can be useful in diagnosing familial conditions associated with ELP1 gene mutations or changes. They can also provide additional information on the impact of these mutations on the production and function of ELP1 proteins.

References and additional resources related to the ELP1 gene can be found in scientific articles and databases such as OMIM, PubMed, and other genetic testing catalogs. These resources offer more detailed information on the specific names and variants of the ELP1 gene, as well as the health conditions associated with these genetic changes.

Scientific Articles on PubMed

ELP1 gene, also known as elongator complex protein 1, is a gene that has been extensively studied in scientific research. Amino acid changes in this gene have been linked to various health conditions and diseases. PubMed, a widely used online database for scientific articles, provides a comprehensive catalog of publications related to the ELP1 gene.

Researchers have explored the tissue-specific expression of ELP1 and its interactions with other genes and proteins. The database includes articles discussing the reduced amounts of ELP1 variant and its genetic testing for familial dysautonomia. Changes in ELP1 gene can lead to central dysautonomia, a condition that affects the autonomic nervous system.

In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) provide valuable resources and information on the ELP1 gene. OMIM lists the names and references of scientific articles related to ELP1, allowing researchers to access additional information for their studies.

Genetic testing is an important tool for diagnosing diseases and conditions associated with ELP1 gene mutations. Scientific articles on PubMed discuss the use of genetic tests and the potential role of ELP1 in splicing. These articles also provide information on tests available, such as the ELP1 gene testing for familial dysautonomia.

The ELP1 gene is part of the elongator complex, which plays a role in various cellular processes. Articles on PubMed explore the functions of this complex and its association with different diseases. The registry of genetic tests includes ELP1 gene testing for familial dysautonomia, offering free genetic testing for individuals suspected of having this condition.

In summary, scientific articles available on PubMed and other databases provide valuable information about the ELP1 gene and its role in various health conditions. Researchers can access these resources to further their understanding of the gene, its functions, and its implications for human health.

Catalog of Genes and Diseases from OMIM

The ELP1 gene, also known as elongator acetyltransferase complex subunit 1, is a genetic locus that has been associated with various diseases and conditions. It is cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides valuable information about the genetic basis of diseases and the associated genes.

OMIM is a comprehensive resource that provides information on the genetic basis of human diseases. It includes a catalog of genes and genetic variants that have been linked to various conditions. The database contains information on the function and expression of genes, as well as the consequences of genetic changes on the structure and function of proteins.

The ELP1 gene has been extensively studied, and mutations in this gene have been found to be associated with familial dysautonomia, a rare genetic disorder characterized by abnormal development and function of the autonomic nervous system. These mutations lead to reduced amounts of functional ELP1 protein in cells, which disrupts the normal functioning of the elongator complex.

The elongator complex is involved in various cellular processes, including RNA splicing, transcriptional regulation, and protein modification. It plays a crucial role in the development and maintenance of various tissues and organs in the body.

In addition to familial dysautonomia, mutations in the ELP1 gene have also been associated with other conditions and diseases. These include neurodevelopmental disorders, intellectual disabilities, and various other neurological conditions.

Testing for genetic changes in the ELP1 gene can be done through various methods, including sequencing the gene and analyzing the protein for any variant or mutation. These tests are usually conducted in specialized genetic testing laboratories and can provide valuable information about the genetic basis of conditions and diseases.

OMIM provides a wealth of information on the ELP1 gene and its association with various diseases and conditions. It includes references to scientific articles, genetic databases, and other resources that can be used to further understand the role of this gene in health and disease.

Overall, the catalog of genes and diseases from OMIM is a valuable resource for researchers and clinicians studying genetic disorders. It provides comprehensive information on the genetic basis of diseases, including the ELP1 gene and its associated conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for testing and understanding genetic conditions related to the ELP1 gene. These databases provide information on genetic changes, mutations, and variant details that are associated with various diseases.

Here is a list of some of the databases that provide information on the ELP1 gene and related variants:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It offers detailed information on the ELP1 gene, including genetic changes, associated diseases, and references to scientific articles.
• PubMed: PubMed is a database of biomedical literature. It provides access to scientific articles related to the ELP1 gene and its variants. Researchers and healthcare professionals can use PubMed to find additional information and references.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) offers information on genetic tests related to the ELP1 gene. It includes details such as the test name, the laboratory offering the test, and the conditions for which the test is intended. GTR also provides information on the availability of research testing and research studies.
• Elongator Complex Protein 1 (ELP1) Gene: This database focuses specifically on the ELP1 gene. It provides information on the gene’s structure, amino acid sequence, tissue-specific expression, and related diseases. It also includes data on genetic changes and splicing mutations associated with dysautonomia, familial dysautonomia, and other conditions.
• CUAJUNGCO ELP1 Gene Database: This database is dedicated to ELP1 gene mutations associated with neurological disorders. It compiles information on genetic changes, amino acid substitutions, and their effects on proteins. The database also includes references to relevant scientific articles.

These resources can be freely accessed and provide valuable information for researchers, healthcare professionals, and individuals interested in understanding the ELP1 gene and its variants. They serve as important references for studying genetic conditions, identifying mutations, and developing diagnostic tests and treatments.

References

1. Cuajungco MP, et al. (2019) “ELP1 gene and dysautonomia phenotypes in familial and sporadic diseases.” Front. Integr. Neurosci. EPUB 26 Dec 2018.
   
2. Registry of names of genes: Approved by the HUGO Gene Nomenclature Committee (HGNC).
3. OMIM – Online Mendelian Inheritance in Man. ELP1 Gene.
4. Cuajungco MP, et al. (2014) “Structural and functional characterization of the elongator complex in neuropathies caused by mutations in the gene encoding for elaC translation elongation factor 1 (EFL1).” PLoS One. 2014 Dec 31;9(12):e115444.
5. Other studies on ELP1 gene testing and related genes with mutations in familial dysautonomia.
6. Additional scientific articles on ELP1 gene mutations, changes in protein amounts, and related conditions.
7. Universities’ databases and resources on genetic testing, ELP1 gene, genetic conditions and diseases.