Property Summary

NCBI Gene PubMed Count 33
Grant Count 14
R01 Count 14
Funding $1,462,176.71
PubMed Score 17.43
PubTator Score 11.95

Knowledge Summary

Patent (853)

Expression

  Differential Expression (1)

Disease log2 FC p
acute quadriplegic myopathy 1.697 0.000

Gene RIF (15)

PMID Text
26698174 Data suggest mutation in invariant Cys-loop of CHRND (D140N) observed in muscle of one patient (11 y/o girl) with congenital myasthenia (w/ severe muscle weakness) alters conformation of ligand/acetylcholine binding site and receptor functionality.
25080583 This study showed that a single mutation of the delta subunit, L332P, allows the synapse in slow muscles to function but renders those in fast muscles almost nonfunctional.
24240098 These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits.
23448903 No mutations were found in CHRNG, CHRND and CHRNA1 genes of Indian families with Escobar syndrome.
20840187 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20584212 Observational study of gene-disease association. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19259974 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVE      1 - 70
ETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVY     71 - 140
WLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGE    141 - 210
WEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSV    211 - 280
AISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKL    281 - 350
FLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRP    351 - 420
PASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFL    421 - 490
QGVYNQPPPQPFPGDPYSYNVQDKRFI                                               491 - 517
//

Text Mined References (35)

PMID Year Title
26698174 2016 Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates.
25080583 2014 A single mutation in the acetylcholine receptor ?-subunit causes distinct effects in two types of neuromuscular synapses.
24240098 2014 Determinants in the ? and ? subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.
23448903 2013 Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
20840187 2010 Peer smoking and the nicotinic receptor genes: an examination of genetic and environmental risks for nicotine dependence.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20584212 2010 Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
19259974 2009 Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
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