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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CHAT-20-RE | 20 (40 μL) | 200 μL |  |
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| CHAT-20-OR | 20 (40 μL) | 200 μL |  |
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| CHAT-20-GO | 20 (40 μL) | 200 μL |  |
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| CHAT-20-GR | 20 (40 μL) | 200 μL |  |
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| CHAT-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : CHAT
Gene Name : Choline O-acetyltransferase
Chromosome : CHR 10: 496,090,94-496,651,03
Locus : 10q11.23
Alt. Genes : HNRNPA3P1
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