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Cholinergic receptor, nicotinic, alpha 4

CHRNA4, neuronal nicotinic acetylcholine receptor alpha 4 subunit, alpha4 nAChR
This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] (from NCBI)
Top mentioned proteins: CHRNB2, HAD, beta2, CAN, AGE
Papers on CHRNA4
Genetic associations with reflexive visual attention in infancy and childhood.
Goldsmith et al., United States. In Dev Sci, Dec 2015
The genetic markers (single nucleotide polymorphisms and variable number tandem repeats on the genes APOE, BDNF, CHRNA4, COMT, DRD4, HTR4, IGF2, MAOA, SLC5A7, SLC6A3, and SNAP25) are related to brain development and/or to the availability of neurotransmitters such as acetylcholine, dopamine, or serotonin.
Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate.
Arcos-Burgos et al., Canberra, Australia. In Mol Psychiatry, Dec 2015
We found several new genetic regions linked and/or associated with these endophenotypes, and others previously associated to ADHD, for example, loci harbored in the LPHN3, FGF1, POLR2A, CHRNA4 and ANKFY1 genes.
Replication of the association between CHRNA4 rs1044396 and harm avoidance in a large population-based sample.
Wagner et al., Bonn, Germany. In Eur Neuropsychopharmacol, Dec 2015
Most notably, the rs1044396 polymorphism in the CHRNA4 gene, which codes for the α4 subunit of the nicotinic acetylcholine receptor, has been linked to negative emotionality traits including harm avoidance in a recent study.
Genetic Risk Determinants for Cigarette Smoking Dependence in Mexican Mestizo Families.
Mutchinick et al., Mexico. In Nicotine Tob Res, Oct 2015
METHODS: Three hundred sixty-four Mexican Mestizo Mexico City residents from 87 families with at least one smoker were assessed for association of 12 gene variants of six candidate genes (CHRNA4, CHRNB2, DRD2, ANKK1, SLC6A3, and CYP2A6) with cigarette consumption, age of initiation and smoking duration.
Genetic models of focal epilepsies.
Baulac et al., Paris, France. In J Neurosci Methods, Jul 2015
In this article, we provide an update on the mutational spectrum of neuronal nicotinic acetylcholine receptor genes (CHRNA4, CHRNB2, CHRNA2) and KCNT1 causing autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), and of LGI1 in autosomal dominant epilepsy with auditory features (ADEAF).
Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy.
Zhang et al., Guangzhou, China. In Int J Clin Exp Med, 2014
OBJECTIVE: The present study aims to investigate the gene mutations of CHRNB2, CHRNA2 and CHRNA4 in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence.
Stefansson et al., United States. In Transl Psychiatry, 2014
We identified genome-wide significant association in the alpha-4 nicotinic receptor subunit (CHRNA4) gene on chromosome 20q13: lowest P=8.0 × 10(-9) across all the samples for rs2273500-C (frequency=0.15;
Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.
Baulac, Paris, France. In Prog Brain Res, 2013
Molecular genetic advances in inherited focal epilepsies have pinpointed their genetic heterogeneity and the fact that they are mediated by different biological pathways: ion channel subunit genes have been linked to ADNFLE (CHRNA4, CHRNA2, CHRNB2, and KCNT1, encoding, respectively, the α4, α2, and β2 subunits of the neuronal nicotinic acetylcholine receptor, and a potassium channel subunit); neuronal secreted protein (LGI1-encoding epitempin) has been linked to autosomal dominant epilepsy with auditory features; and mTORC1-repressor DEPDC5 (DEP domain-containing protein 5) gene has recently been reported in a broad spectrum of inherited focal epilepsies (ADNFLE, FTLE, FFEVF).
Genetic background of febrile seizures.
Rezaei et al., In Rev Neurosci, 2013
SCN1A, IL-1β, CHRNA4, and GABRG2 were the most commonly involved genes in this context.
Biochemical and genetic analyses of childhood attention deficit/hyperactivity disorder.
Caylak, Çankırı, Turkey. In Am J Med Genet B Neuropsychiatr Genet, 2012
To date, these studies have reported substantial evidence implicating several genes (dopaminergic: DRD4, DAT1, DRD5, COMT; noradrenergic: DBH, ADRA2A; serotonergic: 5-HTT, HTR1B, HTR2A; cholinergic: CHRNA4, and central nervous system development pathway: SNAP25, BDNF) in the etiology of ADHD.
Interaction of the cholinergic system and the hypothalamic-pituitary-adrenal axis as a risk factor for depression: evidence from a genetic association study.
Montag et al., Bonn, Germany. In Neuroreport, 2012
Identified a significant epistasis effect BCL1 by CHRNA4 showing that carriers of the CC genotype at the BCL1 locus who were also homozygous for the T allele at the CHRNA4 locus had the highest depression scores.
Structural characterization of binding mode of smoking cessation drugs to nicotinic acetylcholine receptors through study of ligand complexes with acetylcholine-binding protein.
Sixma et al., Amsterdam, Netherlands. In J Biol Chem, 2012
Data indicate that cytisine, varenicline, and nicotine are all high affinity binders for the alpha4beta2 nAChRs, but all display lower affinity for the alpha7 subtype receptor.
Selective down-regulation of α4β2 neuronal nicotinic acetylcholine receptors in the brain of uremic rats with cognitive impairment.
Faura et al., San Juan de Alicante, Spain. In Exp Neurol, 2012
The number of functional alpha4beta2 heteromeric neuronal nicotinic receptors is decreased in the brains of rats with severe renal failure.
A highly conserved cytoplasmic cysteine residue in the α4 nicotinic acetylcholine receptor is palmitoylated and regulates protein expression.
Anand et al., Columbus, United States. In J Biol Chem, 2012
Our results identify a novel palmitoylation site on cysteine 273 in the M1-M2 loop of the alpha4 nAChR and determine that cysteines in both intracellular loops are regulatory factors in total and cell surface protein expression of the alpha4beta2 nAChR.
Involvement of nicotinic acetylcholine receptor in the proliferation of mouse induced pluripotent stem cells.
Watanabe et al., Tokorozawa, Japan. In Life Sci, 2012
Stimulation of alpha4-nAChR and alpha7-nAChR by nicotine may lead to a significant increase in the rate of mouse induced pluripotent stem cell proliferation.
Assessing the impact of nicotine dependence genes on the risk of facial clefts: An example of the use of national registry and biobank data.
Lie et al., Oslo, Norway. In Nor Epidemiol, 2011
Gamma-aminobutyric acid B receptor 2 (GABBR2), dopa decarboxylase (DDC), and cholinergic receptor nicotinic alpha 4 (CHRNA4) are three examples of genes that have previously shown strong associations with nicotine dependence.
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.
Casari et al., Milano, Italy. In Nat Genet, 2000
Mutations of the gene encoding the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4 ) have been found in ADNFLE-ENFL1 families, but these mutations account for only a small proportion of ADNFLE cases.
Reduced antinociception in mice lacking neuronal nicotinic receptor subunits.
Changeux et al., Paris, France. In Nature, 1999
The alpha4 nAChR subunit, possibly associated with the beta2 nAChR subunit, is therefore crucial for nicotine-elicited antinociception.
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
Berkovic et al., Bonn, Germany. In Nat Genet, 1995
The neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) maps to the same region of 20q (ref.
Nicotinic acetylcholine receptor mutations
Hirose et al., Bethesda, United States. In Unknown Journal, 0001
This rare genetic syndrome can be caused by mutations in at least two different subunits genes of the neuronal nicotinic acetylcholine receptor (nAChR), CHRNA4 and CHRNB2.
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