Cholinergic Receptor, Nicotinic, Epsilon (CHRNe)

CHR-NE; CHRN-E; N-AChRE; NAChRE; N-AChR-E; CMS2A; FCCMS; SCCMS; CMS1D; ACHRE; CMS1E; CMS2-A; Neuronal Acetylcholine Receptor Epsilon

SPN	T633
HGNC	1966
MGI	87894
PubMed	8081721
RGD	2353
UniProt	Q04844
Wiki	CHRNE

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 achetylcholine 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.It is likely that this change in subunit composition, which occurs during the first 2 weeks after birth, accounts for the switch in properties of acetylcholine-activated channels from low-conductance, long open time to high-conductance, brief open time that occurs over approximately the same time course.

Reference

"Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits."
Eur. J. Biochem. 215:229-238(1993) [PubMed] [Europe PMC] [Abstract]

"A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome."
Neurology 45:982-985(1995) [PubMed] [Europe PMC] [Abstract]

"Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit."
Proc. Natl. Acad. Sci. U.S.A. 92:758-762(1995) [PubMed] [Europe PMC] [Abstract]

"New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome."
Hum. Mol. Genet. 5:1217-1227(1996) [PubMed] [Europe PMC] [Abstract]

"Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit."
Neuron 17:157-170(1996) [PubMed] [Europe PMC] [Abstract]

"Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations."
Hum. Mol. Genet. 6:753-766(1997) [PubMed] [Europe PMC] [Abstract]

"Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome."
J. Gen. Physiol. 116:449-462(2000) [PubMed] [Europe PMC] [Abstract]

"Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes."
Neurology 59:162-168(2002) [PubMed] [Europe PMC] [Abstract]

"Highly fatal fast-channel syndrome caused by AChR epsilon subunit mutation at the agonist binding site."
Neurology 79:449-454(2012) [PubMed] [Europe PMC] [Abstract]