The HDAC4 gene, also known as Histone Deacetylases 4, is a gene that encodes a protein involved in the process of removing acetyl groups from histones, which are proteins that help package DNA into a compact structure in the cell nucleus. The information about this gene can be found in various genetic databases and scientific resources.

Deacetylases, such as HDAC4, play a role in regulating gene expression by modifying the structure of histones. Changes in the HDAC4 gene can lead to various conditions and syndromes, including a disorder called 2q37 deletion syndrome. This syndrome is characterized by a deletion of a specific region on chromosome 2q37 and is associated with intellectual disability and other health problems.

Testing for variants and changes in the HDAC4 gene can be done through genetic tests. The Online Mendelian Inheritance in Man (OMIM) database provides additional information on the HDAC4 gene and its related diseases. The Genetic Testing Registry also lists tests that can be done to detect changes in this gene.

In addition to the HDAC4 gene, there are other genes related to histone deacetylases and histone modifications. These genes and their functions are important in understanding cellular processes and their impact on health and disease. PubMed articles and references can provide more information on the research and studies related to the HDAC4 gene and its functions.

Genetic changes in the HDAC4 gene can lead to various health conditions. HDAC4 is a member of the deacetylases gene family, which plays a crucial role in modifying histones and regulating gene expression. When genetic changes occur in HDAC4, it can result in abnormal protein function and lead to the development of certain diseases and disabilities.

One health condition related to genetic changes in HDAC4 is 2q37 syndrome, also known as deletion 2q37 or Mowat-Wilson syndrome. This syndrome is caused by a deletion of genes on chromosome 2q37, which includes the HDAC4 gene. Individuals with this syndrome may experience intellectual disability, developmental delay, facial abnormalities, and other physical and health abnormalities.

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Genetic testing can be done to identify changes in the HDAC4 gene, as well as other related genes, for the diagnosis of 2q37 syndrome or other health conditions. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders and provides information on the variations and associated health conditions linked to the HDAC4 gene.

Additional resources for information and testing related to HDAC4 gene changes include scientific journals, such as PubMed, which publish research articles on genetic variants and their implications for health. There are also various databases and registries, such as the HDAC4 Gene Tests registry and other genetic testing laboratories, that offer specific tests for HDAC4 gene changes and related health conditions.

References
  1. OMIM database: www.omim.org
  2. PubMed database: www.ncbi.nlm.nih.gov/pubmed
  3. HDAC4 Gene Tests registry: www.genetests.org

2q37 deletion syndrome

The 2q37 deletion syndrome is a genetic disorder that involves the loss of genetic material from a specific region of chromosome 2, known as 2q37. This syndrome is also often referred to as “2q37 deletion,” “2q37 microdeletion syndrome,” or “del(2)(q37.1).” The term “2q37” refers to the location of this genetic abnormality on the long arm (q) of chromosome 2, specifically at position 37.1.

See also  DYRK1A gene

Individuals with 2q37 deletion syndrome may experience a range of physical, cognitive, and developmental abnormalities. The specific signs and symptoms can vary widely from person to person, but may include intellectual disability, delayed speech and language development, behavioral problems, distinctive facial features, growth delays, and heart defects.

Genes in the 2q37 region are involved in various cellular processes, including the regulation of gene expression and the modification of histones, which are proteins that help package DNA. One gene in particular, HDAC4, encodes a protein called histone deacetylase 4, which is involved in modifying histones and regulating gene expression. Changes in the HDAC4 gene have been associated with intellectual disability and other features of 2q37 deletion syndrome.

Additional information on 2q37 deletion syndrome can be found in scientific databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide access to research articles, genetic testing information, and descriptions of related diseases and conditions.

Diagnostic testing for 2q37 deletion syndrome may involve a variety of genetic tests, including chromosome analysis, DNA sequencing, and deletion/duplication analysis. These tests can help identify the presence of a 2q37 deletion and provide information about the specific genes involved.

References:

  1. “2q37 deletion syndrome.” Genetics Home Reference. U.S. National Library of Medicine. Retrieved from: https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome
  2. “2q37 microdeletion syndrome.” Orphanet. Retrieved from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96199
  3. “2q37 deletion syndrome.” Online Mendelian Inheritance in Man. Retrieved from: https://www.omim.org/entry/600430
  4. “2q37 deletion syndrome.” Genetic Testing Registry. Retrieved from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C3179743/

Other Names for This Gene

  • The HDAC4 gene is also known as:
  • Genet pubmed and genes changes
  • Health diseases
  • Health variant called
  • Genetic testing disability deletion articles
  • Gene of registry abnormalities databases deacetylases
  • Type from related conditions
  • Omim catalog scientific 2q37
  • Additional histones

For additional information on this gene, see the resources listed below:

  • Catalog of human genes and genetic disorders: Omim
  • Scientific articles related to this gene: Pubmed
  • Tests for gene changes: Genetests
  • Gene testing information: Genetests
  • Registry of research studies exploring the HDAC4 gene: Clinicaltrials.gov
  • Genetic testing registry for the HDAC4 gene: Genetests
  • Information on related conditions or genes: Genetests
  • References to scientific articles on this gene: Pubmed
  • Additional resources for gene information: Genetests

Additional Information Resources

  • OMIM database: OMIM (Online Mendelian Inheritance in Man) is a comprehensive and authoritative compendium of human genes and genetic phenotypes. It provides information on the HDAC4 gene and related conditions, including the 2q37 deletion syndrome. You can access the OMIM database at www.omim.org.
  • PubMed: PubMed is a database of scientific articles and publications. You can find articles on the HDAC4 gene, its functions, and its role in various diseases and abnormalities by searching for “HDAC4 gene” or related terms. Access PubMed at pubmed.ncbi.nlm.nih.gov.
  • Genetics Home Reference: Genetics Home Reference provides consumer-friendly information about the effects of genetic variations on human health. It offers resources on the HDAC4 gene, related conditions, and genetic testing. Visit Genetics Home Reference at ghr.nlm.nih.gov.
  • DECIPHER database: DECIPHER is a web-based platform that enables the sharing and exploration of genomic and phenotypic data associated with rare genetic disorders. It includes information on 2q37 deletion syndrome and related conditions. Find more information at decipher.sanger.ac.uk.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information about genetic tests for the HDAC4 gene and related genes. It provides details on the purpose, methodology, and availability of genetic tests. Explore the GTR at www.ncbi.nlm.nih.gov/gtr.

These resources can provide you with additional information, scientific articles, and databases to further explore the HDAC4 gene, related conditions, and genetic testing options. They can be valuable tools for understanding the role of the HDAC4 gene in 2q37 deletion syndrome and other diseases and disabilities related to abnormalities in histone deacetylases.

See also  Blau syndrome

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a collection of genetic tests, including those related to the HDAC4 gene. It provides information on various tests that can be used to detect genetic abnormalities and diagnose related conditions.

Genetic testing is a way to identify changes in genes, chromosomes, or proteins. It can help to determine the risk of developing certain diseases or conditions, confirm or rule out a diagnosis, and guide treatment decisions.

Tests listed in the Genetic Testing Registry related to the HDAC4 gene can provide valuable information about various aspects, including:

  • Genetic variants and their impact on health
  • Conditions associated with changes in the HDAC4 gene
  • Specific tests that can detect abnormalities in this gene

The Genetic Testing Registry serves as a comprehensive resource for researchers, healthcare professionals, and individuals seeking information about genetic tests. It contains information from various databases, including PubMed, OMIM, and more, ensuring reliable and up-to-date information.

For the HDAC4 gene, there are tests available that can detect specific changes or abnormalities. These tests are designed to identify variants in the HDAC4 gene, which is involved in the regulation of gene expression and plays a role in epigenetic modifications.

Some of the conditions associated with changes in the HDAC4 gene include the 2q37 deletion syndrome and other related disorders. These conditions can cause intellectual disability, developmental delays, and other health issues.

Additional resources, including scientific articles, can also be found in the Genetic Testing Registry. These resources provide in-depth information about the HDAC4 gene, its functions, and the role of histone deacetylases in cell biology.

In conclusion, the Genetic Testing Registry lists various tests related to the HDAC4 gene. These tests provide crucial information about genetic variants, associated diseases, and can guide healthcare professionals in diagnosing and treating related conditions. The registry offers a valuable resource for individuals interested in genetic testing and researchers in the field.

Scientific Articles on PubMed

PubMed is a popular database that provides access to a vast collection of scientific articles related to various health conditions and diseases. One gene that has been extensively studied in relation to disabilities and cell abnormalities is the HDAC4 gene.

The HDAC4 gene is located on chromosome 2q37 and is associated with a variety of diseases and conditions. Changes or deletions in this gene can lead to abnormal cell function and contribute to the development of certain disabilities.

PubMed provides a catalog of scientific articles that explore the role of the HDAC4 gene in various health conditions. These articles list additional genes that are related to HDAC4 and provide information on genetic testing and variant analysis.

One such resource on PubMed is OMIM (Online Mendelian Inheritance in Man), which provides a comprehensive registry of genes and genetic disorders. OMIM contains a wealth of information on HDAC4 and its associated health conditions.

Scientific articles on PubMed also discuss other histone deacetylases (HDACs), which are enzymes that modify the structure of histones to regulate gene expression. These articles provide references to other scientific studies and highlight the importance of HDACs in health and disease.

Health professionals and researchers can use PubMed to access the latest scientific literature on the HDAC4 gene and its role in various diseases and conditions. This information can be invaluable for diagnostic purposes, genetic testing, and the development of targeted therapies.

  • Disabilities and cell abnormalities
  • Databases and resources for HDAC4 gene
  • Deletion and changes in the HDAC4 gene
  • Catalog of genes related to HDAC4 on OMIM
  • Genetic testing and variant analysis
  • Scientific articles on PubMed
  • Health conditions related to abnormalities in HDAC4

In conclusion, PubMed provides a wealth of scientific articles and resources on the HDAC4 gene and its role in various health conditions. Researchers and healthcare professionals can access these articles to gain a better understanding of the genetic basis of diseases and to inform their clinical practice and research.

See also  WDR35 gene

Catalog of Genes and Diseases from OMIM

The HDAC4 gene is involved in various genetic conditions, including the 2q37 deletion syndrome. This syndrome, also known as the “brachydactyly-mental retardation syndrome,” is characterized by abnormal hand and foot development, intellectual disability, and other related abnormalities. The HDAC4 gene plays a role in the regulation of histones, which are proteins that help package and organize DNA within cells.

Genetic tests can be performed to identify changes or variants in the HDAC4 gene that may be associated with these conditions. These tests are available through various health and genetic testing resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Scientific articles, references, and additional information on this gene can be found in these databases.

The OMIM catalog provides a comprehensive list of genes and diseases, including those related to HDAC4. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. The catalog includes names, descriptions, and references for various diseases and genes.

For individuals with known or suspected genetic conditions, testing for HDAC4 gene abnormalities can provide important diagnostic information. These tests can help confirm a diagnosis, predict the prognosis of the condition, and guide treatment decisions. It can also provide information on the inheritance pattern of the condition, which can be useful for family planning.

In summary, the HDAC4 gene is involved in the 2q37 deletion syndrome and other related genetic conditions. Testing for abnormalities in this gene can provide valuable information for diagnosing and managing these conditions. The OMIM catalog and other resources provide a wealth of information on genes, diseases, and related scientific articles.

Gene and Variant Databases

When researching a specific gene, such as HDAC4, it is important to consult gene and variant databases for comprehensive information. These databases contain a wealth of data related to the gene, including its functions, associated diseases, and known variants.

One commonly used database is called OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic abnormalities. It provides detailed information about the HDAC4 gene, related conditions such as 2q37 deletion syndrome, and other genes associated with similar genetic abnormalities.

Another useful database is GeneTests, which is a comprehensive resource for genetic health information. GeneTests provides access to a wide range of resources, including clinical genetic tests, references to scientific articles from PubMed, and information about related genes and diseases.

These databases offer various tools and resources for researchers and healthcare professionals. Users can find information about genetic testing options, related syndromes and conditions, and references to scientific articles. This information is particularly useful for individuals with a disability or health condition related to the HDAC4 gene, as it can help guide diagnosis and treatment decisions.

Some of the key gene and variant databases include:
Database Description
OMIM A catalog of human genes and genetic abnormalities, including HDAC4 and related conditions.
GeneTests A comprehensive resource for genetic health information, including clinical genetic tests and references to scientific articles.

By utilizing these databases, researchers and healthcare professionals can stay up-to-date with the latest information on the HDAC4 gene and its related conditions. These resources are invaluable for understanding the genetic basis of diseases and for providing accurate and informed care to individuals with health conditions related to this gene.

References