CHRND wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CHRND wild-type allele is located in the vicinity of 2q37.1 and is approximately 11 kb in length. This allele, which encodes acetylcholine receptor subunit delta protein, is involved in the regulation of synaptic transmission at the neuromuscular junction. Mutations in the gene are associated with lethal type multiple pterygium syndrome and congenital myasthenic syndrome types 3A (slow-channel), 3B (fast-channel) and 3C (acetylcholine receptor deficient).

**Synonyms:** - ACHRD - Acetylcholine Receptor, Muscle, Delta Subunit Gene - Acetylcholine Receptor, Nicotinic, Delta (Muscle) Gene - CMS2A - CMS3A - CMS3B - CMS3C - Cholinergic Receptor Nicotinic Delta Subunit wt Allele - Cholinergic Receptor, Nicotinic Delta Gene - Cholinergic Receptor, Nicotinic, Delta (Muscle) Gene - Cholinergic Receptor, Nicotinic, Delta Gene - Cholinergic Receptor, Nicotinic, Delta Polypeptide Gene - FCCMS - SCCMS