Search
choline-0-acetyltransferase (choline acetylase, choactase, ChAT, CAT)
Function:
- catalyzes reversible acetylation of choline within axon terminals to form the neurotransmitter acetylcholine
- HCNP increases production of choline acetyltransferase
acetyl-CoA + choline CoA + O-acetylcholine
Structure:
- belongs to the carnitine/choline acetyltransferase family
Alternative splicing: named isoforms=3
Pathology:
- levels of choline acetyltransferase are diminished in the hippocampus & cerebral cortex of patients with Alzheimer's disease of moderate severity
- defects in ChAT are the cause of familial infantile myasthenia gravis 2 Misc:
- presence of ChAT is often used as a marker of cholinergic axons
Related
acetylcholine (Miochol, Pragmoline)
CNS cholinergic system
gene
General
acetyltransferase
Properties
SIZE: MW = 83 kD
entity length = 748 aa
MOTIF: histidine residue {H442}
cofactor-binding site [520-532]
FOR-BINDING-OF: coenzyme A
Database Correlations
OMIM correlations
MORBIDMAP 118490
UniProt P28329
Pfam PF00755
Entrez Gene 1103
Kegg hsa:1103
ENZYME 2.3.1.6
References
- UniProt :accession
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT
- Wikipedia choline acetyltransferase entry
http://en.wikipedia.org/wiki/Choline_acetyltransferase