FUNCTION: SwissProt: Q07001 # After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
SIZE: 517 amino acids; 58895 Da
SUBUNIT: Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.
DISEASE: SwissProt: Q07001 # Defects in CHRND are a cause of slow-channel congenital myasthenic syndrome (SCCMS) [MIM:601462, 254200]. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. Postsynaptic disorders result from mutations in proteins forming the subunits of the muscle acetylcholine receptor (AChR). The kinetic abnormalities of AChR result in either prolonged ion channel activations that underlie slow-channel myasthenic syndromes (SCCMS) or abbreviated channel activations that underlie the abnormally rapid decay of endplate currents in fast-channel syndromes (FCCMS). A third disorder associated with postsynaptic CMS is called CMS type Id (CMS1d), and could also result from mutations in the proteins forming the subunits of the muscle AChR. Mutations underlying SCCMS cause a gain of function and usually show dominant inheritance. & Defects in CHRND are a cause of fast-channel congenital myasthenic syndrome (FCCMS) [MIM:608930]. Mutations underlying FCCMS cause a loss of function and show recessive inheritance.
SIMILARITY: SwissProt: Q07001 ## Belongs to the ligand-gated ionic channel (TC 1.A.9) family.