Products

Western Blot (Recombinant protein)

ELISA

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

COLQ

Gene Alias

EAD

Gene Description

collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase

Omim ID

Gene Ontology

Gene 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

Other Designations

AChE Q subunit|acetylcholinesterase collagen-like tail subunit|acetylcholinesterase-associated collagen|collagenic tail of endplate acetylcholinesterase|single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase