CHRNE wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - ACHRE - Acetylcholine Receptor, Muscle, Epsilon Subunit Gene - Acetylcholine Receptor, Nicotinic, Epsilon (Muscle) Gene - AchR Epsilon Subunit Gene - CMS1D - CMS1E - CMS2A - CMS4A - CMS4B - CMS4C - Cholinergic Receptor Nicotinic Epsilon Subunit wt Allele - Cholinergic Receptor, Nicotinic Epsilon Gene - Cholinergic Receptor, Nicotinic, Epsilon (Muscle) Gene - Cholinergic Receptor, Nicotinic, Epsilon Gene - Cholinergic Receptor, Nicotinic, Epsilon Polypeptide Gene - FCCMS - SCCMS