Health Topics
Official websites use .gov
A
.gov website belongs to an official government
organization in the United States.
Secure .gov websites use HTTPS
A
lock (
) or https:// means you’ve safely connected to
the .gov website. Share sensitive information only on official,
secure websites.
Normal Function
The COLQ gene provides instructions for making a protein called acetylcholinesterase collagenic tail peptide. This protein plays an important role in the neuromuscular junction, which is the area between nerve cells and muscle cells where signals are passed on to trigger muscle movement.
The acetylcholinesterase collagenic tail peptide anchors another protein called acetylcholinesterase to the muscle cell at the neuromuscular junction. The acetylcholinesterase collagenic tail peptide is made up of three identical parts (subunits). Each subunit attaches (binds) to a bundle of four acetylcholinesterase proteins. Acetylcholinesterase plays a role in regulating the signaling between nerve cells and muscle cells by breaking down the signaling protein acetylcholine.
Health Conditions Related to Genetic Changes
Congenital myasthenic syndromes
Many variants (also called mutations) in the COLQ gene have been found to cause congenital myasthenic syndromes. These are a group of conditions that are characterized by weak muscles that tire easily (myasthenia). The myasthenia in people with these conditions typically begins shortly after birth or during early childhood.
Most of the COLQ gene variants that cause congenital myasthenic syndromes lead to the substitution of one protein building block (amino acid) for another in the acetylcholinesterase collagenic tail peptide or cause cells to produce a shortened, nonfunctional version of the protein. The abnormal protein cannot effectively anchor acetylcholinesterase in the neuromuscular junction, reducing the amount of acetylcholinesterase in this region. As a result, acetylcholine is not regularly broken down and the signaling between nerve and muscle cells is prolonged. This signaling overload can damage muscle cells, leading to the muscle weakness that is characteristic of congenital myasthenic syndromes.
More About This Health ConditionOther Names for This Gene
- acetylcholinesterase collagenic tail peptide
- acetylcholinesterase-associated collagen
- AChE Q subunit
- collagenic tail of endplate acetylcholinesterase
- COLQ_HUMAN
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Abicht A, Muller JS, Lochmuller H. Congenital Myasthenic Syndromes Overview. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1168/ Citation on PubMed
- Eshaghian T, Rabbani B, Badv RS, Mikaeeli S, Gharib B, Iyadurai S, Mahdieh N. COLQ-related congenital myasthenic syndrome: An integrative view. Neurogenetics. 2023 Jul;24(3):189-200. doi: 10.1007/s10048-023-00719-7. Epub 2023 May 25. Citation on PubMed
- Ohno K, Ito M, Ohkawara B. Review of 40 genes causing congenital myasthenic syndromes. J Hum Genet. 2025 Jun 18. doi: 10.1038/s10038-025-01355-9. Online ahead of print. Citation on PubMed
- Shao S, Shi G, Bi FF, Huang K. Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations. Curr Neuropharmacol. 2023;21(7):1594-1605. doi: 10.2174/1570159X21666230126145652. Citation on PubMed
- Spendiff S, Lochmuller H, Maselli RA. Congenital myasthenic syndromes. Int Rev Neurobiol. 2025;182:253-274. doi: 10.1016/bs.irn.2025.04.025. Epub 2025 May 16. Citation on PubMed
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.