collagen like tail subunit of asymmetric acetylcholinesterase
अंतिम अद्यतन 13 Feb 2026
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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
Related patient information and medicines
Patient information leaflet
अल्जाइमर रोग
Cognitive behavioural t... Other ways to help with anxiety, depression and difficulties with behaviour include aromatherapy, music and dance, using animals as therapy, massage and exercise. Medicines used for Alzheimer's disease include acetylcholinesterase (AChE) inhibitors ( donepezil , galantamine or rivastigmine ) or memantine. See the.
Patient information leaflet
होंठों का सुधार
This leaflet is provided by the British Association of Aesthetic Plastic Surgeons , the professional body responsible for the advancement of education and safety in aesthetic plastic surgery. This is suitable for anyone who would like larger or f... The bulk of the lip can be increased by injections into the muscle but these tend to dissolve at a.
Patient information leaflet
डिमेंशिया के लिए दवा और उपचार
This may also be helpful for some people with dementia - for example, to improve their mood or feelings of restlessness. Medicines for dementia work by increasing the levels of certain chemical messengers in the brain. Acetylcholinesterase inhibitors These include donepezil , rivastigmine and galantamine. They work by increasing the level of.
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सिस्टेमिक स्क्लेरोसिस
सिस्टेमिक स्क्लेरोसिस is a type of scleroderma, which means hard skin. If you have scleroderma, you have areas of hardening of the skin. A number of different influences seem to... What is known is that cells called fibroblasts are affected by the immune system in some way and make too much of a protein called collagen. The कोलेजन gets deposited in.
Patient information leaflet
डुप्यूट्रेन का संकुचन
Injection treatment Steroid injections may be beneficial for some people with painful nodules and cords in the palm, but only if there is no contracture or loss of function. In some cases, injection of a collagenase (which dissolves collagen), or of a biologic drug (which suppresses the immune system) may be helpful. These last two are not.
Patient information leaflet
श्रोणि अंग का प्रोलैप्स
However, with new advances in surgical techniques, including keyhole (laparoscopic) surgery, this is becoming less of a problem. Other risk factors Very rarely, pelvic organ prolapse can occur because of Ehlers-Danlos syndrome (EDS), a congenital problem (a problem that someone is born with) that causes deficiency, in the body, of a substance.
अधिक पठन और संदर्भ
- 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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