Preferred Label : CHRNE wt Allele;
NCIt synonyms : Cholinergic Receptor, Nicotinic, Epsilon (Muscle) Gene; CMS4A; CMS4B; CMS4C; CMS2A; AchR Epsilon Subunit Gene; Cholinergic Receptor, Nicotinic, Epsilon Polypeptide Gene; Acetylcholine Receptor, Nicotinic, Epsilon (Muscle) Gene; FCCMS; SCCMS; ACHRE; CMS1D; CMS1E; Cholinergic Receptor, Nicotinic Epsilon Gene; Acetylcholine Receptor, Muscle, Epsilon Subunit Gene; Cholinergic Receptor, Nicotinic, Epsilon Gene; Cholinergic Receptor Nicotinic Epsilon Subunit wt Allele;
NCIt definition : Human CHRNE wild-type allele is located in the vicinity of 17p13.2 and is approximately
37 kb in length. This allele, which encodes acetylcholine receptor subunit epsilon
protein, is involved in cholinergic receptor-dependent ion transport activity. Mutation
of the gene is associated with the following congenital myasthenic syndrome subtypes:
slow-channel type 4A, fast-channel type 4B and acetylcholine receptor deficiency type
4C.;
NCI Metathesaurus CUI : CL1905794;
GenBank Accession Number : X66403;
Origin ID : C198629;
UMLS CUI : C5849038;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
