COLQ wt Allele

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;

Details

Origin ID

C200236;

UMLS CUI

C5849030;

OMIM relation
- Collagenic tail of endplate acetylcholinesterase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]
- Heparin Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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