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CHAT (choline acetyltransferase) belongs to the carnitine/choline acetyltransferase family. It catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. Defects in CHAT are the cause of congenital myasthenic syndrome with episodic apnea (CMSEA). CHAT is known to to be present exclusively in the cytoplasm of cholinergic neurons and anti-CHAT antibody has been considered as the best marker for cholinergic neurons. It has been observed that CHAT gene generates multiple mRNA splice variants, including peripheral type CHAT (pCHAT) and common type CHAT (cCHAT), encoding 40-55 kDa and 66-70 kDa forms of proteins, respectively.