CHAT

A gene on chromosome 10q11.2 that encodes choline acetyltransferase, which binds acetylCoA to choline, controlling acetylcholine production at the synapses of the autonomic nervous system, muscle and the sympathetic nervous system.

Molecular pathology
Polymorphisms of CHAT have been associated with choline acetyltransferase depletion in Alzheimer’s disease and cognitive impairment; CHAT mutations are associated with congenital myasthenic syndrome associated with episodic apnoea.

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