Product Name	COLQ
Chinese Name	乙酰胆碱酯酶相关Collagen protein多肽抗体
Alias	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.
Research Area	Neurobiology  Signal transduction  Cytoskeleton
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Pig, Horse, Rabbit, )
Applications	ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	45kDa
Cellular localization	The cell membrane
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human COLQ: 301-400/455
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 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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