產品介紹    background:
The neurotransmitter acetycholine is synthesized from choline and acetyl-coA by the choline acetyltransferase (ChAT)enzyme,and a specific marker of cholinergic neurons.The regulation of ChATactivity is thought to be important during the development of nervous systems interactions .The reduction of ChAT activity has been found in several neurodegenerative disorders including Alzheimer’s and amyotrophic lateral sclerosis.

Function:
Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.

DISEASE:
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.

Similarity:
Belongs to the carnitine/choline acetyltransferase family.

Gene ID:
1103

Database links:
Entrez Gene: 1103 Human
Entrez Gene: 12647 Mouse
Entrez Gene: 290567 Rat
Omim: 118490 Human
SwissProt: P28329 Human
SwissProt: Q03059 Mouse
SwissProt: P32738 Rat
Unigene: 302002 Human
Unigene: 442817 Mouse
Unigene: 45116 Rat

Important Note:

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 

膽堿乙酰轉移酶（Choline Acetyltransferase，ChAT 又稱為：choline O-Acetyltransferase ,CHOACTase;）是催化膽堿和乙酰輔酶A轉變為乙酰和輔酶A的一種酶。ChAT有M,S,R三個亞型，此抗體與三個亞型都反應。