Presku: | AAP30665 |
Size: | 100 ug |
Weight: | 70kDa |
Gene: | 1103 |
Format: | Lyophilized powder |
Target: | CHAT is an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This protein is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer disease. 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.Cholinergic systems are implicated in numerous neurologic functions. Alteration in some cholinergic neurons may account for the disturbances of Alzheimer disease. The protein encoded by this gene synthesizes the neurotransmitter acetylcholine. Alternative splice variants have been found that contain alternative 5' untranslated exons. Three of the four described splice variants encode identical 69 kDa proteins while one variant encodes both the 69 kDa and a larger 82 kDa protein. |
Alternative names: | CMS1A; CMS1A2 |