COLQ wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COLQ wild-type allele is located in the vicinity of 3p25.1 and is approximately 72 kb in length. This allele, which encodes acetylcholinesterase collagenic tail peptide protein, is involved in the binding of acetylcholinesterase to basal lamina. Mutation of the gene is associated with congenital myasthenic syndrome 5.

**Synonyms:** - CMS5 - Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase wt Allele - Collagen-Like Tail Subunit (Single Strand of Homotrimer) of Asymmetric Acetylcholinesterase Gene - Collagenic Tail of Endplate Acetylcholinesterase - EAD - Single Strand of Homotrimeric Collagen-Like Tail Subunit of Asymmetric Acetylcholinesterase Gene