抗Choline Acetyltransferase/ChAT抗体 | Anti-Choline Acetyltransferase/ChAT Antibody

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Image

	Western Blot: Choline Acetyltransferase/ChAT Antibody [NBP1-30052] - Rat brain lysate showing specific immunolabeling of the ~70k ChAT.
	Immunohistochemistry-Paraffin: Choline Acetyltransferase/ChAT Antibody [NBP1-30052] - Rat brainstem showing specific labeling using the anti-ChAT antibody. Image courtesy of Dr. Robert Sloviter, University of Arizona.

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Background

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.; Choline acetylase catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.; CATALYTIC ACTIVITY: Acetyl-CoA + choline = CoA + O-acetylcholine.; Defects in CHAT are the cause of familial infantile myasthenia gravis 2 (FIMG2); also known as CMS-EA. FIMG2 patients have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. Inheritance is autosomal recessive.

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