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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CHAT (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1103
Official gene symbolCHAT
Full namecholine O-acetyltransferase
Aliases,CHOACTASE,CMS1A,CMS1A2,
Gene summaryThis 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]
LocationChromosome: 10   Locus: 10q11.2
Gene position50817141 - 50873150  Map Viewer
Gene orientationplus
Gene size56010 bp
Gene sequence
OMIM ID118490