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].
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
WB
Mouse, Rat
1:1000-2000
IHC-P
Mouse, Rat
1:200-1000
IHC-F
Mouse, Rat
1:200-1000
IF
Mouse, Rat
1:100-500
交叉反应
交叉反应: Mouse, Rat
相关产品
暂无相关产品
靶标
基因名
CHAT
蛋白名
Choline O-acetyltransferase
亚细胞定位
Cytosol; Nucleus
疾病
Defects in CHAT are the cause of congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]; formerly known as familial infantile myasthenia gravis 2 (FIMG2). CMSEA is an autosomal recessive congenital myasthenic syndrome. 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.
相似性
Belongs to the carnitine/choline acetyltransferase family.
功能
Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.