Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Gene Summary
COLQ encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in COLQ are associated with endplate acetylcholinesterase deficiency.