Gene:
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Gene ID:
201508
Symbol:
COLQ
Species:
1000
Description:
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. Eight transcript variants have been identified for this gene.