acetylcholinesterase-associated collagen (acetylcholinesterase collagenic tail peptide, AChE Q subunit, COLQ)

Function

• component of the asymmetric form of AChE
• anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina
• proline-rich attachment domain (PRAD) binds the AChE catalytic subunits
• triple-helical tail is stabilized by disulfide bonds at each end
• may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay Homotrimer

Alternative splicing

named isoforms=8

Pathology

• defects in COLQ result in end-plate acetylcholinesterase deficiency

More general terms

• oligomerizing protein

Database

• OMIM: https://mirror.omim.org/entry/603033
• OMIM: https://mirror.omim.org/entry/603034
• UniProt: http://www.uniprot.org/uniprot/Q9Y215.html