CHAT, Official Symbol CHATprovided by HGNC Official Full Name choline O-acetyltransferaseprovided by HGNC Primary source HGNC:HGNC:1912 See related Ensembl:ENSG00000070748 MIM:118490; AllianceGenome:HGNC:1912 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMS6; CMS1A; CMS1A2; CHOACTASE Summary 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. [provided by RefSeq, May 2010] Expression Biased expression in placenta (RPKM 2.7), small intestine (RPKM 0.2) and 1 other tissue See more Orthologs mouse all