Aliases for CHRNE Gene
External Ids for CHRNE Gene
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]
GeneCards Summary for CHRNE Gene
CHRNE (Cholinergic Receptor, Nicotinic, Epsilon (Muscle)) is a Protein Coding gene. Diseases associated with CHRNE include myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency and chrne-related congenital myasthenic syndrome. Among its related pathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine receptor activity. An important paralog of this gene is CHRNA3.
UniProtKB/Swiss-Prot for CHRNE Gene
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