CHRNG wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CHRNG wild-type allele is located in the vicinity of 2q37.1 and is approximately 8 kb in length. This allele, which encodes acetylcholine receptor subunit gamma protein, plays a role in neuromuscular organogenesis. Mutations in the gene are associated with lethal type multiple pterygium syndrome and Escobar syndrome.

**Synonyms:** - ACHRG - Acetylcholine Receptor, Muscle, Gamma Subunit Gene - Acetylcholine Receptor, Nicotinic, Gamma (Muscle) Gene - Cholinergic Receptor Nicotinic Gamma Subunit wt Allele - Cholinergic Receptor, Nicotinic, Gamma (Muscle) Gene - Cholinergic Receptor, Nicotinic, Gamma Gene - Cholinergic Receptor, Nicotinic, Gamma Polypeptide Gene