choline O-acetyltransferase
Ultimo aggiornamento 13 Feb 2026
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L 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.
Normal function
L 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.
Conditions referring to this gene or chromosome
Altri nomi
acetyl CoA:choline O-acetyltransferase
CHOACTASE
choline acetylase
CLAT_HUMAN
CMS1A
Related patient information and medicines
Patient information leaflet
Ulcere della bocca
The effect... These can be bought at pharmacies. For all these products, follow the directions in the packet very carefully. Examples include: Benzydamine spray or mouthwash (Difflam) Products containing a temporary numbing agent (local anaesthetic) called lidocaine. Choline salicylate gel (Bonjela). The adult form of Bonjela should not be used in.
Patient information leaflet
Malattia mani-piedi-bocca
If other measures are not helping, here are some of the possible treatments: Lidocaine gelThis is a local anaesthetic, which means it numbs the area. This can be used in children. Benzydamine mouthwash or spray. The spray can be used from 5 years of age, the mouthwash from 12 years of age. Choline salicylate gel (Bonjela®). This cannot be used in.
Patient information leaflet
Herpes labiale
If you have any concerns, it may be better to wear your glasses and seek advice from your doc... Cold sore treatment You can buy many cold sore treatments from a pharmacy. These include: Painkilling gels Choline salicylate gel is available for pain control but cannot be used under the age of 16 due to the risk of Reye's syndrome. Lidocaine is a.
Patient information leaflet
Infezione primaria da herpes labiale
Your first (primary) infection with the virus dell'herpes labiale can seem different to the repeated (recurring) cold sores which many people have. Cold sores are caused by the herpes simplex virus (HSV). Choline salicylate gel (Bonjela dental gel) can be used in the mouth to reduce pain. This... Note : Bonjela teething gel no longer contains choline.
Patient information leaflet
Dentizione
There have been a number of cases where a baby has accidentally swallowed too much of the a... If you do choose to use a teething gel, follow the manufacturer's instructions closely to be sure it is safe. There is no evidence that using gels which contain choline salicylate is of any benefit for teething. In addition, there is a risk of the.
Ulteriori letture e riferimenti
- choline O-acetyltransferase; MedlinePlus, National Library of Medicine.
- Barisic N, Chaouch A, Muller JS, Lochmuller H. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. Eur J Paediatr Neurol. 2011 May;15(3):189-96. doi: 10.1016/j.ejpn.2011.03.006. Epub 2011 Apr 17.
- Engel AG, Shen XM, Selcen D, Sine SM. What have we learned from the congenital myasthenic syndromes. J Mol Neurosci. 2010 Jan;40(1-2):143-53. doi: 10.1007/s12031-009-9229-0. Epub 2009 Aug 18.
- Schara U, Christen HJ, Durmus H, Hietala M, Krabetz K, Rodolico C, Schreiber G, Topaloglu H, Talim B, Voss W, Pihko H, Abicht A, Muller JS, Lochmuller H. Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations. Eur J Paediatr Neurol. 2010 Jul;14(4):326-33. doi: 10.1016/j.ejpn.2009.09.009. Epub 2009 Nov 8.
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