Reactivities: | Human |
Presku: | AAP34785 |
Size: | 100ug |
Weight: | 31kDa |
Gene: | 8292 |
Format: | Lyophilized powder |
Target: | COLQ 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 COLQ are associated with endplate acetylcholinesterase deficiency. |
Alternative names: | EAD; FLJ55041 |