Entrez gene ID | | 1103 |
Official gene symbol | | CHAT |
Full name | | choline O-acetyltransferase |
Aliases | | ,CHOACTASE,CMS1A,CMS1A2, |
Gene 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] |
Location | | Chromosome: 10 Locus: 10q11.2 |
Gene position | | 50817141 - 50873150 Map Viewer |
Gene orientation | | plus |
Gene size | | 56010 bp |
Gene sequence |
| |
OMIM ID | | 118490 |
|