Full name: collagen like tail subunit of asymmetric acetylcholinesterase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CMS5; EAD

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

Gene size: 71574bp

Exon count: 18