COLQ

Acetylcholinesterase collagenic tail peptide also known as AChE Q subunit, acetylcholinesterase-associated collagen, or ColQ is the collagen-tail subunit of is_associated_with::acetylcholinesterase found in the is_associated_with::neuromuscular junction. In humans it is encoded by the COLQ is_associated_with::gene.

Function
This gene encodes the subunit of a is_associated_with::collagen-like molecule associated with is_associated_with::acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a is_associated_with::proline-rich attachment domain (PRAD) that binds an acetylcholinesterase is_associated_with::tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Multiple is_associated_with::transcript variants encoding different is_associated_with::isoforms have been found for this gene.

Clinical significance
Mutations in this gene are associated with endplate acetylcholinesterase deficiency.