Cholinergic Receptor, Nicotinic, Epsilon (CHRNe)

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

Cholinergic Receptor, Nicotinic, Epsilon (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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD149Mu01 Recombinant Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD149Mu01 Polyclonal Antibody to Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cholinergic Receptor, Nicotinic, Epsilon (CHRNe) ELISA Kit Customized Service Offer
  1. "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]
  2. "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]
  3. "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]
  4. "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]
  5. "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]
  6. "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]
  7. "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]
  8. "Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes."Neurology 59:162-168(2002) [PubMed] [Europe PMC] [Abstract]
  9. "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]