collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
This gene 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 this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.
COLQ; collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase; acetylcholinesterase collagenic tail peptide; acetylcholinesterase associated collagen; AChE Q subunit; collagenic tail of endplate acetylcholinesterase; EAD; single strand of homotrimeric collagen like tail subunit of asymmetric acetylcholinesterase; Acetylcholinesterase collagen-like tail subunit isoform I; Acetylcholinesterase collagenic tail peptide precursor; Acetylcholinesterase-associated collagen; asymmetric acetylcholinesterase; COLQ_HUMAN; single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase