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MT000117

UniProt Annotations

Entry Information

Gene Name	choline O-acetyltransferase
Protein Entry	CLAT_HUMAN
UniProt ID	P28329
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=M; Synonyms=83 kDa; IsoId=P28329-1; Sequence=Displayed; Name=S; Synonyms=74 kDa; IsoId=P28329-2; Sequence=VSP_000790; Name=R; Synonyms=70 kDa; IsoId=P28329-3; Sequence=VSP_000791;
Catalytic Activity	Acetyl-CoA + choline = CoA + O-acetylcholine.
Disease	Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA) [MIM:254210]: An autosomal recessive congenital myasthenic syndrome. 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. {ECO:0000269\|PubMed:11172068, ECO:0000269\|PubMed:12756141}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
Similarity	Belongs to the carnitine/choline acetyltransferase family. {ECO:0000305}.
Web Resource	Name=Wikipedia; Note=Choline acetyltransferase entry; URL="http://en.wikipedia.org/wiki/Choline_acetyltransferase";