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Description
Cholinergic systems are implicated in numerous neurologic functions. Alteration in some cholinergic neurons may account for the disturbances of Alzheimer disease. The protein encoded by this gene synthesizes the neurotransmitter acetylcholine. Alternative splice variants have been found that contain alternative 5' untranslated exons. Three of the four described splice variants encode identical 69 kDa proteins while one variant encodes both the 69 kDa and a larger 82 kDa protein. Choline acetylase catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.Catalytic activity: Acetyl-CoA + choline = CoA + O-acetylcholine. Defects in CHAT are the cause of familial infantile myasthenia gravis 2 (FIMG2), also known as CMS-EA. FIMG2 patients have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. Inheritance is autosomal recessive. Also known as: CHOACTase, choline acetylase, choline O-acetyltransferase, CMS1A, CMS1A2, B230380D24Rik.
Immunogen
A synthetic peptide from aa region 70-240 of human ChAT conjugated to an immunogenic carrier protein was used as the antigen.