The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1.25 µg/ml. Detects a band of approximately 48 kDa (predicted molecular weight: 48 kDa). Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Use at an assay dependent concentration.
Titre using peptide based assay 1/312500.
Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.
Found at the end plate of skeletal muscle.
Involvement in 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.
Belongs to the COLQ family. Contains 2 collagen-like domains.
The proline-rich attachment domain (PRAD) binds the AChE catalytic subunits.
The triple-helical tail is stabilized by disulfide bonds at each end.