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ChAT/BF680 (bs-0042R-BF680)  
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100ul/2980.00元
大包裝/詢價
產品編號 bs-0042R-BF680
英文名稱 ChAT/BF680
中文名稱 BF680標記的ChAT膽堿乙酰轉移酶抗體
別    名 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.  
研究領域 神經生物學  Alzheimer's  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應
產品應用
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 82kDa
細胞定位 細胞核 細胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human ChAT: 101-200/748 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 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

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



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