collagen like tail subunit of asymmetric acetylcholinesterase
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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.
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.
Conditions referring to this gene or chromosome
Other names
acetylcholinesterase collagenic tail peptide
acetylcholinesterase-associated collagen
AChE Q subunit
collagenic tail of endplate acetylcholinesterase
COLQ_HUMAN
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Leitura adicional e referências
- collagen like tail subunit of asymmetric acetylcholinesterase; MedlinePlus, National Library of Medicine.
- Abicht A, Muller JS, Lochmuller H. Congenital Myasthenic Syndromes Overview. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Bick S, Mirzaa GM, 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/
- 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.
- 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.
- 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.
- 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.
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