Recombinant Human Choline O-acetyltransferase (CHAT),Truncated

Uniprot Id

P28329

Target Species

Human

Target Name

CHAT

Target Full Name

Choline O-acetyltransferase

Target Function

Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.

Target Involvement

Myasthenic syndrome, congenital, 6, presynaptic (CMS6)

Target Protein Families

Carnitine/choline acetyltransferase family

Target Research Area

Neuroscience

Target Synonyms

Acetyl CoA choline O acetyltransferase; Acetyl CoA:choline O acetyltransferase; ChAT; CHOACTase; Choline acetylase; choline acetyltransferase; Choline O acetyltransferase; Choline O-acetyltransferase; CLAT_HUMAN; CMS1A; CMS1A2; EC 2.3.1.6; OTTHUMP00000019583; OTTHUMP00000019584

Target Background

This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. 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.