COLQ, Official Symbol COLQprovided by HGNC Official Full Name collagen like tail subunit of asymmetric acetylcholinesteraseprovided by HGNC Primary source HGNC:HGNC:2226 See related Ensembl:ENSG00000206561 MIM:603033; AllianceGenome:HGNC:2226 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EAD; CMS5 Summary 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. [provided by RefSeq, Jul 2008] Expression Broad expression in heart (RPKM 7.4), lymph node (RPKM 2.8) and 19 other tissues See more Orthologs mouse all