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SDS
Mouse Acetylcholinesterase collagenic tail peptide ELISA kit
Catalog #: E03A1815
Sample Type: Biological samples

 

Other Names

COLQ; Colq; EAD

Research Area

Signal transduction

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.