choline-0-acetyltransferase (choline acetylase, choactase, ChAT, CAT)
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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
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT
- ↑ Wikipedia choline acetyltransferase entry http://en.wikipedia.org/wiki/Choline_acetyltransferase
Database
- UniProt: http://www.uniprot.org/uniprot/P28329.html
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1103
- OMIM: https://mirror.omim.org/entry/118490
- OMIM: https://mirror.omim.org/entry/254200
- OMIM: https://mirror.omim.org/entry/254210
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1103