Acetylcholine receptor subunit delta (CHRND)

Acetylcholine receptor subunit delta (CHRND) is a protein-coding gene encoding the delta subunit of the nicotinic acetylcholine receptor, predominately found in the neuromuscular junction of skeletal muscle[1][4][8]. This receptor is a pentameric ligand-gated ion channel composed of two alpha, one beta, one gamma (or epsilon), and one delta subunit, and is essential for transducing the binding of acetylcholine into skeletal muscle contraction by mediating the opening of a cation channel[1][4][10]. Mutations in CHRND are associated with multiple neuromuscular diseases, especially various forms of congenital myasthenic syndrome and lethal multiple pterygium syndrome, arising from impaired channel function and subsequent defective synaptic transmission[2][3]. The delta subunit specifically is critical for proper assembly, co-localization, and functioning of the acetylcholine receptor complex on muscle cells[1][2]. Drugs commonly interact with the whole receptor, either stimulating it (e.g., acetylcholine, succinylcholine) or blocking it (e.g., nondepolarizing neuromuscular blockers like vecuronium or rocuronium), with clinical implications in anesthesia and treatment of neuromuscular diseases[4][7]. Defective function due to mutation or pharmacologic blockade can result in muscle weakness up to severe paralysis, highlighting its therapeutic and diagnostic importance[1][2][4].

Other names

Cholinergic receptor nicotinic delta subunitAcetylcholine receptor, nicotinic, delta (muscle)ACHRDCHRNDCholinergic receptor, nicotinic, delta polypeptideCholinergic receptor, nicotinic deltaCholinergic receptor, nicotinic, delta (muscle)Cholinergic receptor, nicotinic, deltaAcetylcholine receptor subunit deltaCMS2ACMS3ACMS3BCMS3CFCCMSSCCMS

Agonism (e.g., acetylcholine binds and opens the channel) Competitive antagonism (e.g., neuromuscular blockers prevent acetylcholine binding)