The CHAT gene, also known as the choline acetyltransferase gene, is responsible for producing the choline acetyltransferase enzyme. This enzyme plays a crucial role in the synthesis of the neurotransmitter acetylcholine. Mutations in the CHAT gene can lead to decreased acetylcholine levels, resulting in myasthenic syndromes.

Myasthenic syndromes are a group of genetic diseases characterized by muscle weakness and fatigue. Congenital myasthenic syndromes are caused by mutations in various genes, and the CHAT gene is just one of them. Testing for these conditions can be done through genetic testing, which looks for specific changes in the CHAT gene.

In addition to myasthenic syndromes, mutations in the CHAT gene have also been associated with other health conditions. Some studies have shown that changes in this gene may be related to certain neuropsychiatric disorders, such as schizophrenia and bipolar disorder.

For more information on the CHAT gene, its variant forms, and related diseases, scientific resources like OMIM, PubMed, and genetic databases can be consulted. These resources provide detailed articles, references, and registry listings to further explore the role of CHAT and other genes in different conditions.

In scientific research, there have been numerous health conditions discovered that are related to genetic changes. These changes can occur in specific genes, leading to various syndromes and diseases. The identification of these genetic changes has been made possible through the use of advanced technology and databases such as Pubmed, OMIM, and gene catalogs.

One of the conditions related to genetic changes is syndromes. Syndromes refer to a collection of symptoms and signs that are characteristic of a specific genetic disorder. These syndromes can be caused by mutations in certain genes or changes in the structure of the genes. The identification of these genetic changes has allowed scientists to understand the underlying causes of these syndromes and develop targeted treatments.

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A specific example of a genetic change related to health conditions is the CHAT gene. CHAT stands for choline acetyltransferase, which is an enzyme that plays a critical role in the production of acetylcholine, a neurotransmitter involved in the transmission of nerve signals. Mutations in the CHAT gene can lead to a condition known as congenital myasthenic syndrome, which is characterized by muscle weakness and decreased muscle tone.

Genetic changes related to health conditions can also affect receptor genes. Receptors are proteins located on the surface of cells that bind to specific molecules and initiate a response. Changes in receptor genes can lead to the development of various diseases, such as neurological disorders and autoimmune conditions.

To identify these genetic changes, scientific researchers and healthcare professionals rely on databases such as Pubmed, OMIM, and gene catalogs. These databases provide a wealth of information, including references to scientific articles, case studies, and genetic testing information. Additionally, there are registries specifically dedicated to collecting and cataloging genetic changes and health conditions related to these changes.

For individuals with suspected genetic changes related to health conditions, additional tests such as genetic testing may be recommended. Genetic testing can help diagnose and confirm the presence of specific genetic changes, allowing for personalized treatment plans and management strategies.

See also  PRODH gene

In conclusion, genetic changes play a significant role in the development of various health conditions. Advances in scientific research and technology have allowed for the identification and understanding of these changes. Through the use of databases such as Pubmed, OMIM, and gene catalogs, scientists and healthcare professionals are able to obtain valuable information and references related to genetic changes and their associated health conditions.

Congenital myasthenic syndrome

Congenital myasthenic syndrome (CMS) is a genetic disorder characterized by decreased neuromuscular transmission resulting in muscle weakness. The disorder is usually present at birth (congenital) and can affect various muscles in the body. CMS is caused by mutations in genes that encode proteins involved in the neuromuscular junction, such as the acetylcholine receptor subunits and the choline acetyltransferase enzyme.

The symptoms of CMS can vary depending on the specific gene variant involved, but commonly include muscle weakness that worsens with exertion, difficulty swallowing (dysphagia), and respiratory problems. The severity of symptoms can range from mild to severe. Diagnosis of CMS often involves a combination of clinical symptoms, physical examinations, and specialized tests, such as electromyography and genetic testing.

Testing for genetic changes associated with CMS can be done through various resources and databases. The Online Mendelian Inheritance in Man (OMIM) database is a valuable source of information on the genetic basis of this and other congenital diseases. Additionally, scientific articles listed on PubMed can provide further insight into specific gene variants and their effects on neuromuscular function.

Patients with suspected CMS can also benefit from the resources provided by the Congenital Myasthenic Syndromes International Patient Registry and the Myasthenia Gravis Foundation of America. These organizations provide additional information on CMS, as well as support and resources for affected individuals and their families.

Management of CMS typically involves symptom-specific treatments, such as acetylcholinesterase inhibitors to improve muscle strength and respiratory support if necessary. It is important for individuals with CMS to receive ongoing care from healthcare professionals with expertise in this field to ensure optimal management of their condition.


  1. OMIM database:
  2. PubMed database:
  3. Congenital Myasthenic Syndromes International Patient Registry:
  4. Myasthenia Gravis Foundation of America:

Other Names for This Gene

The CHAT gene is also known by other names:

  • Choline acetyltransferase
  • Myasthenic syndrome, congenital, associated with episodic apnea
  • ChAT
  • CHAT gene

These different names refer to the same gene and can be used interchangeably.

Other genetic changes in the CHAT gene are listed in the Genetic Testing Registry (GTR) and in the Online Mendelian Inheritance in Man (OMIM) databases. These resources provide additional information about the CHAT gene and the related conditions associated with mutations in this gene. Scientific articles and other genetic testing resources can also be found in PubMed, a database of references and abstracts on life sciences and biomedical topics.

For more information on this gene and related genes, you can consult the CHAT gene entry in OMIM or the CHAT gene page in the GTR. These resources provide detailed information on the gene, its variants, and the conditions associated with it.

Additional Information Resources

For additional information on the CHAT gene and related topics, please refer to the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders and genes. You can find information on CHAT mutations, myasthenic syndromes, and other related conditions by searching for “CHAT” or “myasthenic syndromes” in the OMIM catalog.
  • The PubMed database contains scientific articles and research papers on various topics, including the CHAT gene and related diseases. You can find articles on CHAT mutations, choline acetyltransferase, and myasthenic syndromes by searching for these terms in PubMed.
  • The Genetic Testing Registry (GTR) is a comprehensive resource that provides information on genetic tests for various conditions. You can find information on genetic tests for CHAT mutations and myasthenic syndromes in the GTR.
  • The National Center for Biotechnology Information (NCBI) website hosts various databases and resources related to genetics and genomics. You can find information on CHAT mutations, myasthenic syndromes, and related genes on the NCBI website.
  • The Human Gene Mutation Database (HGMD) is a database that compiles information on disease-causing mutations in human genes. You can find information on CHAT mutations and associated diseases in the HGMD.
  • The Online Mendelian Inheritance in Animals (OMIA) database provides information on genetic disorders and genes in various animal species. If you are interested in the CHAT gene and its role in animals, you can find information on the OMIA website.
See also  MANBA gene

These resources can provide you with more detailed information on the CHAT gene, myasthenic syndromes, and related topics. They can be valuable references for researchers, healthcare professionals, and individuals interested in learning more about this gene and its implications for health and disease.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for mutations in the CHAT gene.

The CHAT gene is associated with congenital myasthenic syndromes, a group of diseases characterized by changes in the acetylcholine receptor gene. These diseases result in decreased choline acetyltransferase activity, leading to neuromuscular junction dysfunction.

In the GTR, you can find information on various tests available for mutations in the CHAT gene. These tests can help diagnose and understand the genetic basis of myasthenic syndromes. The GTR provides resources such as test names, conditions, genes, and references.

Here are some resources available in the GTR related to the CHAT gene:

  • Catalog of Genetic Tests: This catalog lists the tests available for CHAT gene mutations.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) provides information on genetic conditions and genes, including those related to myasthenic syndromes.
  • PubMed: PubMed is a database of scientific articles. It contains information on research studies and findings related to the CHAT gene and myasthenic syndromes.
  • Genetic Health: This resource provides information on genetic testing and health conditions associated with CHAT gene mutations.

By exploring these resources in the GTR, you can find information on tests, variant names, and other relevant genetic information for the CHAT gene and its related conditions.

Scientific Articles on PubMed

PubMed is one of the most widely used databases for accessing scientific articles in the field of health and medicine. It provides a vast collection of articles related to various diseases, genes, and genetic changes. Scientific articles on PubMed cover a range of topics, including myasthenic syndromes, choline acetyltransferase gene variant, and other related conditions.

In this context, the CHAT gene is listed in the PubMed catalog, which contains information on genetic changes and mutations in this gene. The CHAT gene is associated with myasthenic syndromes, a group of conditions characterized by a decrease in the function of the acetylcholine receptor.

PubMed provides additional resources for testing and information on other genes and genetic changes related to myasthenic syndromes. It also contains references to scientific articles and studies on this topic, which can be used for further research and understanding.

OMIM is another database that can be accessed through PubMed, providing detailed information on genetic syndromes and related conditions. This database includes the names of genes and their variants, along with information on the associated diseases and conditions.

Overall, PubMed is a valuable resource for researchers and healthcare professionals seeking scientific articles and information on genes, genetic changes, and related diseases. It offers a comprehensive collection of articles and references, making it a useful tool for staying updated on the latest research in the field of neurology and other related areas.

See also  Genes F

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genetic diseases and associated genes. OMIM is a database that collects and organizes information on genetic conditions and their genetic basis.

OMIM includes articles on genetic diseases and their associated genes. It provides information on the names, mutations, and conditions associated with each gene. The catalog also lists additional resources for further information, such as other databases and scientific articles.

One example of a disease listed in the catalog is congenital myasthenic syndromes. This group of diseases is caused by mutations in genes related to the neuromuscular junction, such as the choline acetyltransferase gene and the acetylcholine receptor genes. Decreased acetylcholine receptor function leads to muscle weakness and fatigue.

The catalog provides information on testing for genetic diseases. It includes recommended tests for each gene and variant changes that may be associated with the disease. Testing can help diagnose individuals with genetic conditions and provide guidance for treatment and management.

OMIM also has a registry for individuals with genetic diseases. The registry allows individuals and families to connect with others who have similar conditions and provides a platform for sharing experiences and resources.

References for the information in the catalog are provided, including PubMed IDs for scientific articles. This allows users to access the original research and learn more about the genetic basis of the diseases.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides comprehensive information on a wide range of genetic conditions and their associated genes, serving as a valuable tool for understanding and studying genetic disorders.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying and treating genetic diseases. They provide comprehensive information on genes, variants, and associated conditions, enabling better understanding and management of these disorders. Here are some of the key databases available:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genes and genetic disorders, including information on clinical descriptions, inheritance patterns, and molecular genetics.
  • PubMed: A database of scientific articles and references from various journals. It contains information on genes, mutations, and associated diseases. Researchers can access the latest research and findings in the field.
  • GeneTests: A registry of genetic tests that provides information on available tests, laboratories, and contacts. It aids in diagnosing and managing genetic conditions by guiding clinicians to appropriate testing and counseling resources.
  • Myasthenic Syndrome and Congenital Myasthenic Syndromes: Databases specific to myasthenic syndromes, which are a group of autoimmune diseases characterized by decreased acetylcholine receptor activity. These databases contain information on gene mutations, clinical features, and treatment options.

In addition to these databases, there are other resources such as gene-specific databases, disease-specific databases, and genetic variant databases. These databases provide detailed information on specific genes, diseases, and genetic changes associated with various conditions. They play a crucial role in advancing scientific research, genetic testing, and personalized healthcare.


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  2. Congenital myasthenic syndromes. (n.d.). Retrieved from
  3. Genomic resources for the CHAT gene. (n.d.). Retrieved from
  4. Additional information on CHAT gene. (n.d.). Retrieved from
  5. Myasthenic syndrome, congenital. (n.d.). Retrieved from
  6. PubMed databases. (n.d.). Retrieved from
  7. Genetic testing for CHAT gene mutations. (n.d.). Retrieved from
  8. Catalog of Genes and Diseases. (n.d.). Retrieved from
  9. Related syndromes and genes. (n.d.). Retrieved from
  10. Articles on CHAT gene. (n.d.). Retrieved from