Aliases for CHAT Gene
External Ids for CHAT Gene
Previous GeneCards Identifiers for CHAT Gene
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]
GeneCards Summary for CHAT Gene
CHAT (Choline O-Acetyltransferase) is a Protein Coding gene. Diseases associated with CHAT include Myasthenic Syndrome, Congenital, 6, Presynaptic and Myasthenic Syndrome, Congenital, 1A, Slow-Channel. Among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and Glycerophospholipid biosynthesis. GO annotations related to this gene include transferase activity, transferring acyl groups and choline O-acetyltransferase activity. An important paralog of this gene is CRAT.
UniProtKB/Swiss-Prot for CHAT Gene
Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.