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COLQ Rabbit pAb (bs-10932R)  
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產品編號 bs-10932R
英文名稱 COLQ Rabbit pAb
中文名稱 乙酰膽堿酯酶相關膠原蛋白多肽抗體
別    名 Acetylcholinesterase-associated collagen; AChE Q subunit; asymmetric acetylcholinesterase; Collagen-like tail subunit(single strand of homotrimer) of asymmetric acetylcholinesterase; Colq; COLQ_HUMAN; EAD; OTTHUMP00000209566; OTTHUMP00000209567; single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase.  
研究領域 神經生物學  信號轉導  細胞骨架  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 (predicted: Human,Mouse,Rat,Rabbit,Pig,Horse)
產品應用 IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 45 kDa
檢測分子量
細胞定位 細胞膜 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human COLQ: 301-400/455 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ 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 the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Function:
Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.

Subcellular Location:
Cell junction; synapse.

Tissue Specificity:
Found at the end plate of skeletal muscle.

Post-translational modifications:
The triple-helical tail is stabilized by disulfide bonds at each end.

DISEASE:
Defects in COLQ are the cause of congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]; also known as end-plate acetylcholinesterase deficiency or congenital myasthenic syndrome type IC (CMS-IC). CMSE is a rare autosomal recessive congenital myasthenic syndrome characterized by onset during childhood, generalized weakness, abnormal fatigability on exertion, refrectoriness to acetylcholinesterase drugs, decremental electromyographic response and morphological abnormalities of the neuromuscular junctions.

Similarity:
Belongs to the COLQ family.
Contains 2 collagen-like domains.

SWISS:
Q9Y215

Gene ID:
8292

Database links:

Entrez Gene: 8292 Human

Omim: 603033 Human

SwissProt: Q9Y215 Human

Unigene: 146735 Human



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