COLQ Proteins

Protein Information

COLQ (collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase), also known as EAD, is a 455 amino acid protein that localizes to the end plate of skeletal muscle. COLQ anchors the catalytic subunits of asymmetric AChE (acetylcholinesterase) to the basal lamina at the neuromuscular junctions of vertebrates. Mutations of COLQ lead to congenital myasthenic syndromes which are rare autosomal recessive diseases characterized by general weakness increased by exertion, ophthalmoplegia and refractoriness to anticholinesterase drugs. Eight isoforms exist due to alternative splicing events.

Synonyms

A130034K24Rik; Acetylcholinesterase collagenic tail peptide; acetylcholinesterase-associated collagen; AChE Q subunit; CMS5; collagen like tail subunit of asymmetric acetylcholinesterase; collagenic tail of endplate acetylcholinesterase; collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase; collagen-like tail subunit of asymmetric acetylcholinesterase; Colq; EAD; single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase