Description
Product Characteristics: Acetylcholine (ACh) is a common neurotransmitter for motoneurons, preganglionic autonomic neurons, postganglionic parasympathetic neurons, a variety of brain regions and some emerging neuron-like stem cells. The metabolism of Ach is relatively simple, involving only two enzymes: choline acetyltransferase (ChAT) for synthesis and acetylcholinesterase (AChE) for degradation. Further, acetylcholine has little function in neurons other than neurotransmission and seems to be neuron specific. It seems that only cholinergic neurons have significant amounts of ChAT making anti-choline acetyltransferase a useful specific marker. ChAT is a valuable marker for diseases associated with decreased cholinergic function such as Schizophrenia, Alzheimer disease and Down syndrome (1-3).
Target Information: 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]