Preferred Label : COLQ wt Allele;
NCIt synonyms : CMS5; Collagenic Tail of Endplate Acetylcholinesterase; Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase wt Allele; Single Strand of Homotrimeric Collagen-Like Tail Subunit of Asymmetric Acetylcholinesterase
Gene; Collagen-Like Tail Subunit (Single Strand of Homotrimer) of Asymmetric Acetylcholinesterase
Gene; EAD;
NCIt 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.;
NCI Metathesaurus CUI : CL1907065;
GenBank Accession Number : AF057036;
Origin ID : C200236;
OMIM relation
- gene_found_in_organism
- gene_plays_role_in_process
