Choactase catalyzes the synthesis of the neurotransmitter acetylcholine (ACh) from choline and acetyl-CoA in cholinergic neurons. Choline acetyltransferase serves as a specific marker for cholinergic neurons in both peripheral and central nervous systems. Choline acetyltransferase recruits choline for the synthesis of acetylcholine at preganglionic parasympathetic and sympathetic fibres. It is also present at parasympathetic postganglionic fibres. Dysfunction of cholinergic neurons underlies aspects of clinical symptoms found in neurological and psychiatric disorders such as Alzheimer's disease, Down and Rett syndromes. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform.