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Product Name ChAT/Alexa Fluor 680 Chinese Name AF680标记的ChAT胆碱乙酰转移酶抗体 Alias Choline O acetyltransferase; Choline O acetyltransferase; Acetyl CoA choline O acetyltransferase; Acetyl CoA:choline O acetyltransferase; ChAT; CHOACTase; Choline acetylase; choline acetyltransferase; CMS1A; CMS1A2; EC 2.3.1.6; OTTHUMP00000019583; OTTHUMP00000019584; CLAT_HUMAN. Research Area Neurobiology Alzheimer's Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, Pig, ) Applications IF=1:20-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 82kDa Cellular localization The nucleus cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human ChAT: 101-200/748 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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].
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.
SWISS:
P28329
Gene ID:
1103
Database links:Entrez Gene: 1103 Human
Entrez Gene: 12647 Mouse
Omim: 118490 Human
SwissProt: P28329 Human
SwissProt: Q03059 Mouse
Unigene: 302002 Human
Unigene: 442817 Mouse
Unigene: 45116 Rat
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