Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]
Forensic Context
A study in mice demonstrated that the CHRNE gene, which encodes a nicotinic cholinergic receptor ε polypeptide, was specifically down-regulated following Kupffer cell-specific exposure to α-particles in liver tissue [Roudkenar et al. DOI:10.1269/jrr.07078].