Target intelligence / Profile preview

Collagen-like tail subunit of asymmetric acetylcholinesterase (COLQ)

Target
COLQ
Molecular classification
Extracellular matrix protein, Collagen-like protein, Structural subunit (of asymmetric acetylcholinesterase), Other
01

Overview

Collagen-like tail subunit of asymmetric acetylcholinesterase (COLQ) is a structural protein essential for anchoring acetylcholinesterase (AChE) to the basal lamina at the neuromuscular junction[1][2][4]. COLQ forms a homotrimer, with each subunit containing a proline-rich attachment domain (PRAD) that binds and anchors acetylcholinesterase tetramers[1][4]. This positioning is critical for efficient hydrolysis of acetylcholine, terminating synaptic transmission and ensuring proper muscle contraction[2][3]. Mutations in the COLQ gene lead to a reduction or absence of synaptic AChE, resulting in congenital myasthenic syndrome characterized by muscle weakness and impaired neuromuscular signaling[2][3][4]. COLQ is also required for the assembly and accumulation of some forms of butyrylcholinesterase at neuromuscular junctions[3].

Other names
Acetylcholinesterase collagenic tail peptideAChE Q subunitAcetylcholinesterase-associated collagenCollagenic tail of endplate acetylcholinesteraseSingle strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesteraseCollagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesteraseCMS5EAD
02

Biological functions

Anchoring acetylcholinesterase at the neuromuscular junctionRegulation of synaptic transmissionStructural organization of the neuromuscular junctionAssembly of asymmetric acetylcholinesterase and butyrylcholinesterase
03

Disease associations

Congenital myasthenic syndrome (endplate acetylcholinesterase deficiency)Neuromuscular diseases
04

Safety considerations

Loss-of-function mutations cause severe congenital myasthenic syndrome with muscle weaknessNo direct pharmacological targeting; risks associated with deficiency state rather than therapy
05

Biomarkers

Mutations in COLQ gene (for congenital myasthenic syndrome diagnosis)

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