FUNCTION: SwissProt: Q04844 # 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: 493 amino acids; 54697 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: Q04844 # The muscle AChR is the major target antigen in the autoimmune disease myasthenia gravis [MIM:254200]. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase- inhibiting drugs. & Defects in CHRNE 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 CHRNE are a cause of fast-channel congenital myasthenic syndrome (FCCMS) [MIM:608930]. Mutations underlying FCCMS cause a loss of function and show recessive inheritance. & Defects in CHRNE are a cause of congenital myasthenic syndrome type Id (CMS1d) [MIM:608931]; also called congenital myasthenic syndrome associated with acetylcholine receptor deficiency. Mutations underlying AChR deficiency cause a loss of function and show recessive inheritance.SIMILARITY: SwissProt: Q04844 ## Belongs to the ligand-gated ionic channel (TC 1.A.9) family.，官网链接：https://www.sigmaaldrich.cn/product/mm/ag316 默克 科研、开发、生产。 作为生命科学行业的全球领先供应商，我们致力于为科研、生物技术开发和生产，以及制药药物疗法开发和生产提供各类解决方案和服务。

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