Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
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.