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The official name of this gene is “choline O-acetyltransferase.”
CHAT is the gene's official symbol. The CHAT gene is also known by other names, listed below.
The CHAT gene provides instructions for making a protein called choline acetyltransferase. This protein is located at the ends of nerve cells in specialized areas called presynaptic terminals. Choline acetyltransferase facilitates the production of a molecule called acetylcholine. Acetylcholine is essential for normal muscle movement. When acetylcholine is released from the presynaptic terminal, it attaches (binds) to a receptor protein located in the membrane of muscle cells. When acetylcholine binds to its receptor protein, specialized channels in the receptor then open, allowing certain charged atoms (ions) to flow into and out of muscle cells. The flow of these ions allows for muscle contraction and relaxation, resulting in muscle movement.
More than 30 mutations in the CHAT gene have been found to cause congenital myasthenic syndrome. Most of these mutations replace single DNA building blocks (nucleotides) in the CHAT gene. The mutations lead to decreased production of choline acetyltransferase or the production of a protein with decreased ability to aid in the production of acetylcholine. The resulting lack of acetylcholine decreases the availability of open receptors, impairing ion flow through muscle cells. A reduction in muscle cell ion flow decreases muscle movement leading to muscle weakness characteristic of congenital myasthenic syndrome. In addition, people with congenital myasthenic syndrome who have mutations in the CHAT gene are more likely than affected individuals with mutations in other genes to have short pauses in breathing (apnea), but the cause for this association is unclear.
Cytogenetic Location: 10q11.2
Molecular Location on chromosome 10: base pairs 50,817,140 to 50,873,149
The CHAT gene is located on the long (q) arm of chromosome 10 at position 11.2.
More precisely, the CHAT gene is located from base pair 50,817,140 to base pair 50,873,149 on chromosome 10.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CHAT helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acetylcholine ; apnea ; cell ; CoA ; congenital ; contraction ; DNA ; gene ; ions ; molecule ; presynaptic ; protein ; receptor ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.