Recombinant Human Acetylcholinesterase collagenic tail peptide (COLQ)

Uniprot Id

Q9Y215

Target Species

Human

Target Name

COLQ

Target Full Name

Acetylcholinesterase collagenic tail peptide

Target Function

Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.

Target Involvement

Myasthenic syndrome, congenital, 5 (CMS5)

Target Subcellular Location

Cell junction, synapse.

Target Protein Families

COLQ family

Target Tissue Specificity

Found at the end plate of skeletal muscle.

Target Synonyms

Acetylcholinesterase collagen-like tail subunit isoform I; Acetylcholinesterase collagenic tail peptide; Acetylcholinesterase collagenic tail peptide precursor; Acetylcholinesterase-associated collagen; AChE Q subunit; asymmetric acetylcholinesterase; Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase ; Colq; COLQ_HUMAN; EAD; OTTHUMP00000209566; OTTHUMP00000209567; single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase

Target 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.