CHRNE
| Cholinergic receptor, nicotinic, epsilon | |||||||||||
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| Symbols | CHRNE ; CMS2A; FCCMS; SCCMS; CMS1D; ACHRE; CMS1E | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 60 | ||||||||||
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| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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Cholinergic receptor, nicotinic, epsilon, also known as CHRNE, is a human gene.[1]
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.[1]
See also
References
Further reading
- Hantaï D, Richard P, Koenig J, Eymard B (2005). "Congenital myasthenic syndromes". Curr. Opin. Neurol. 17 (5): 539–51. PMID 15367858.
- Yu XM, Hall ZW (1991). "Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor". Nature. 352 (6330): 64–7. doi:10.1038/352064a0. PMID 1712080.
- Ohno K, Hutchinson DO, Milone M; et al. (1995). "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 (3): 758–62. PMID 7531341.
- Gomez CM, Gammack JT (1995). "A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome". Neurology. 45 (5): 982–5. PMID 7538206.
- Beeson D, Brydson M, Betty M; et al. (1993). "Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits". Eur. J. Biochem. 215 (2): 229–38. PMID 7688301.
- Lobos EA (1993). "Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17". Genomics. 17 (3): 642–50. doi:10.1006/geno.1993.1384. PMID 7902325.
- Brenner HR, Rotzler S, Kues WA; et al. (1994). "Nerve-dependent induction of AChR epsilon-subunit gene expression in muscle is independent of state of differentiation". Dev. Biol. 165 (2): 527–36. PMID 7958418.
- Uchitel O, Engel AG, Walls TJ; et al. (1993). "Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor". Muscle Nerve. 16 (12): 1293–301. doi:10.1002/mus.880161205. PMID 8232384.
- Ohno K, Wang HL, Milone M; et al. (1996). "Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit". Neuron. 17 (1): 157–70. PMID 8755487.
- Engel AG, Ohno K, Milone M; et al. (1997). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Hum. Mol. Genet. 5 (9): 1217–27. PMID 8872460.
- Engel AG, Ohno K, Bouzat C; et al. (1997). "End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit". Ann. Neurol. 40 (5): 810–7. doi:10.1002/ana.410400521. PMID 8957026.
- Ohno K, Quiram PA, Milone M; et al. (1997). "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 (5): 753–66. PMID 9158150.
- Nichols P, Croxen R, Vincent A; et al. (1999). "Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome". Ann. Neurol. 45 (4): 439–43. PMID 10211467.
- Croxen R, Newland C, Betty M; et al. (1999). "Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome". Ann. Neurol. 46 (4): 639–47. PMID 10514102.
- Abicht A, Stucka R, Karcagi V; et al. (1999). "A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin". Neurology. 53 (7): 1564–9. PMID 10534268.
- Kindler CH, Verotta D, Gray AT; et al. (2000). "Additive inhibition of nicotinic acetylcholine receptors by corticosteroids and the neuromuscular blocking drug vecuronium". Anesthesiology. 92 (3): 821–32. PMID 10719961.
- Wang HL, Ohno K, Milone M; et al. (2000). "Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome". J. Gen. Physiol. 116 (3): 449–62. PMID 10962020.
- Sieb JP, Kraner S, Rauch M, Steinlein OK (2000). "Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations". Hum. Genet. 107 (2): 160–4. PMID 11030414.
- Dan I, Watanabe NM, Kajikawa E; et al. (2002). "Overlapping of MINK and CHRNE gene loci in the course of mammalian evolution". Nucleic Acids Res. 30 (13): 2906–10. PMID 12087176.
- Croxen R, Hatton C, Shelley C; et al. (2002). "Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes". Neurology. 59 (2): 162–8. PMID 12141316.
External links
- CHRNE+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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