CHRNE

Cholinergic receptor, nicotinic, epsilon, also known as CHRNE, is a human gene.cite web | title = Entrez Gene: CHRNE cholinergic receptor, nicotinic, epsilon| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1145| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: CHRNE cholinergic receptor, nicotinic, epsilon| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1145| accessdate = ]

ee also

* Nicotinic acetylcholine receptor

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Hantaï D, Richard P, Koenig J, Eymard B |title=Congenital myasthenic syndromes. |journal=Curr. Opin. Neurol. |volume=17 |issue= 5 |pages= 539–51 |year= 2005 |pmid= 15367858 |doi=
*cite journal | author=Yu XM, Hall ZW |title=Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor. |journal=Nature |volume=352 |issue= 6330 |pages= 64–7 |year= 1991 |pmid= 1712080 |doi= 10.1038/352064a0
*cite journal | author=Ohno K, Hutchinson DO, Milone M, "et al." |title=Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=92 |issue= 3 |pages= 758–62 |year= 1995 |pmid= 7531341 |doi=
*cite journal | author=Gomez CM, Gammack JT |title=A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. |journal=Neurology |volume=45 |issue= 5 |pages= 982–5 |year= 1995 |pmid= 7538206 |doi=
*cite journal | author=Beeson D, Brydson M, Betty M, "et al." |title=Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. |journal=Eur. J. Biochem. |volume=215 |issue= 2 |pages= 229–38 |year= 1993 |pmid= 7688301 |doi=
*cite journal | author=Lobos EA |title=Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17. |journal=Genomics |volume=17 |issue= 3 |pages= 642–50 |year= 1993 |pmid= 7902325 |doi= 10.1006/geno.1993.1384
*cite journal | author=Brenner HR, Rotzler S, Kues WA, "et al." |title=Nerve-dependent induction of AChR epsilon-subunit gene expression in muscle is independent of state of differentiation. |journal=Dev. Biol. |volume=165 |issue= 2 |pages= 527–36 |year= 1994 |pmid= 7958418 |doi=
*cite journal | author=Uchitel O, Engel AG, Walls TJ, "et al." |title=Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor. |journal=Muscle Nerve |volume=16 |issue= 12 |pages= 1293–301 |year= 1993 |pmid= 8232384 |doi= 10.1002/mus.880161205
*cite journal | author=Ohno K, Wang HL, Milone M, "et al." |title=Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. |journal=Neuron |volume=17 |issue= 1 |pages= 157–70 |year= 1996 |pmid= 8755487 |doi=
*cite journal | author=Engel AG, Ohno K, Milone M, "et al." |title=New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. |journal=Hum. Mol. Genet. |volume=5 |issue= 9 |pages= 1217–27 |year= 1997 |pmid= 8872460 |doi=
*cite journal | author=Engel AG, Ohno K, Bouzat C, "et al." |title=End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. |journal=Ann. Neurol. |volume=40 |issue= 5 |pages= 810–7 |year= 1997 |pmid= 8957026 |doi= 10.1002/ana.410400521
*cite journal | author=Ohno K, Quiram PA, Milone M, "et al." |title=Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. |journal=Hum. Mol. Genet. |volume=6 |issue= 5 |pages= 753–66 |year= 1997 |pmid= 9158150 |doi=
*cite journal | author=Nichols P, Croxen R, Vincent A, "et al." |title=Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. |journal=Ann. Neurol. |volume=45 |issue= 4 |pages= 439–43 |year= 1999 |pmid= 10211467 |doi=
*cite journal | author=Croxen R, Newland C, Betty M, "et al." |title=Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. |journal=Ann. Neurol. |volume=46 |issue= 4 |pages= 639–47 |year= 1999 |pmid= 10514102 |doi=
*cite journal | author=Abicht A, Stucka R, Karcagi V, "et al." |title=A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. |journal=Neurology |volume=53 |issue= 7 |pages= 1564–9 |year= 1999 |pmid= 10534268 |doi=
*cite journal | author=Kindler CH, Verotta D, Gray AT, "et al." |title=Additive inhibition of nicotinic acetylcholine receptors by corticosteroids and the neuromuscular blocking drug vecuronium. |journal=Anesthesiology |volume=92 |issue= 3 |pages= 821–32 |year= 2000 |pmid= 10719961 |doi=
*cite journal | author=Wang HL, Ohno K, Milone M, "et al." |title=Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. |journal=J. Gen. Physiol. |volume=116 |issue= 3 |pages= 449–62 |year= 2000 |pmid= 10962020 |doi=
*cite journal | author=Sieb JP, Kraner S, Rauch M, Steinlein OK |title=Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. |journal=Hum. Genet. |volume=107 |issue= 2 |pages= 160–4 |year= 2000 |pmid= 11030414 |doi=
*cite journal | author=Dan I, Watanabe NM, Kajikawa E, "et al." |title=Overlapping of MINK and CHRNE gene loci in the course of mammalian evolution. |journal=Nucleic Acids Res. |volume=30 |issue= 13 |pages= 2906–10 |year= 2002 |pmid= 12087176 |doi=
*cite journal | author=Croxen R, Hatton C, Shelley C, "et al." |title=Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. |journal=Neurology |volume=59 |issue= 2 |pages= 162–8 |year= 2002 |pmid= 12141316 |doi=

External links

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