Property Summary

NCBI Gene PubMed Count 45
Grant Count 4
R01 Count 4
Funding $243,491.56
PubMed Score 39.77
PubTator Score 67.90

Knowledge Summary

Patent (1,312)

Expression

Synonym

Accession Q04844 D3DTK6
Symbols ACHRE
CMS1D
CMS1E
CMS2A
CMS4A
CMS4B
CMS4C
FCCMS
SCCMS

Gene

PDB

2DF9  

Gene RIF (23)

PMID Text
22178625 This study provied that new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR epsilonL221F mutation.
21715663 Targeting nAChR could offer a strategy for reducing neurodegeneration secondary to hyperphosphorylation of protein tau.
21470676 The mutations in the varepsilon subunit altered Ca(2+) permeability of AChR-channels, with varepsilon(L269F) increasing P(f) and varepsilon(I257F) decreasing it.
21175599 mutational analysis of CHRNE revealed a homozygous 1293insG, which is a well-known low-expressor receptor mutation in patients with epidermolysis bullosa simplex and congenital myasthenic syndrome.
21150643 Three siblings have a clinical history and examination findings typical of homozygous CHRNE mutations; clinical presentation of congenital myasthenia subtypes is variable, and accurate genotyping is essential in choosing appropriate treatment.
20864527 analysis of symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating
20734064 Observational study of gene-disease association. (HuGE Navigator)
19544078 We have identified mutations within the acetylcholine receptor (AChR) epsilon-subunit gene underlying congenital myasthenic syndromes in nine patients (seven kinships) of Dutch origin.
19259974 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNLISLNEKEETL      1 - 70
TTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLP     71 - 140
PAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTFAVDNDGKTINKIDIDTEAYTENGEWAIDFC    141 - 210
PGVIRRHHGGATDGPGETDVIYSLIIRRKPLFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVL    211 - 280
LAQTVFLFLIAQKIPETSLSVPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELL    281 - 350
PRLLGSPPPPEAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQSLGAAAPEV    351 - 420
RCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFNRVPDLPYAPC    421 - 490
IQP                                                                       491 - 493
//

Text Mined References (46)

PMID Year Title
22592360 2012 Highly fatal fast-channel syndrome caused by AChR ? subunit mutation at the agonist binding site.
22178625 2012 A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR ?L221F mutation.
21715663 2011 Neurotoxicity induced by okadaic acid in the human neuroblastoma SH-SY5Y line can be differentially prevented by ?7 and ?2* nicotinic stimulation.
21470676 2011 Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel.
21175599 2011 Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.
21150643 2011 Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
20864527 2010 Subunit symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
19544078 2009 AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
19259974 2009 Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
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