FIGURE: 1 / 2
Recommended positive controls: HepG2.
Predicted reactivity: Mouse (87%), Rat (82%), Bovine (87%).
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.
COLQ (collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase), also known as EAD, is a 455 amino acid protein that localizes to the end plate of skeletal muscle. COLQ anchors the catalytic subunits of asymmetric AChE (acetylcholinesterase) to the basal lamina at the neuromuscular junctions of vertebrates. Mutations of COLQ lead to congenital myasthenic syndromes which are rare autosomal recessive diseases characterized by general weakness increased by exertion, ophthalmoplegia and refractoriness to anticholinesterase drugs. Eight isoforms exist due to alternative splicing events.
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Protein Aliases: Acetylcholinesterase collagenic tail peptide; Acetylcholinesterase-associated collagen; AChE Q subunit; collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase; collagenic tail of endplate acetylcholinesterase; single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
Gene Aliases: CMS5; COLQ; EAD
UniProt ID: (Human) Q9Y215
Entrez Gene ID: (Human) 8292
Molecular Function: extracellular matrix structural protein