EAD antibody, A130034K24Rik antibody, collagen like tail subunit of asymmetric acetylcholinesterase antibody, collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase antibody, COLQ antibody, Colq antibody
Background
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,CMS5,EAD,Signal Transduction,Cell Biology & Developmental Biology,Cytoskeleton,Extracellular Matrix,Bone,COLQ