COLQ Gene - CISMeF

Preferred Label : COLQ Gene;

NCIt synonyms : COLQ; Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase Gene;

NCIt definition : This gene plays a role in anchoring acetylcholinesterase to the synaptic basal lamina of the neuromuscular junction.;

Details

Origin ID

C200235;

UMLS CUI

C1413603;

HGNC gene
- collagen like tail subunit of asymmetric acetylcholinesterase [HGNC gene]
OMIM relation
- Collagenic tail of endplate acetylcholinesterase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Collagenic tail of endplate acetylcholinesterase [OMIM gene]
- collagen like tail subunit of asymmetric acetylcholinesterase [HGNC gene]
gene_encodes_gene_product
- Acetylcholinesterase Collagenic Tail Peptide [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Congenital Myasthenic Syndrome 5 [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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