Cholinergic Receptor, Nicotinic, Alpha 4 (CHRNa4)

CHR-NA4; CHRN-A4; BFNC; EBN; EBN1; NACRA4; N-AChRA4; NAChRA4; N-AChR-A4; Neuronal Acetylcholine Receptor Alpha 4

SPN	U928
HGNC	1958
MGI	87888
PubMed	17768273
RGD	2346
UniProt	P43681
Wiki	CHRNA4

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. After binding acetylcholine, these pentameric receptors respond by undergoing an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

The protein encoded by this gene 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 appear to account for a small proportion of the cases of nocturnal frontal lobe epilepsy.

Reference

"Cloning and transient expression of genes encoding the human alpha-4 and beta-2 neuronal nicotinic acetylcholine receptor (nAChR) subunits."
Gene 155:189-193(1995) [PubMed] [Europe PMC] [Abstract]

"Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4)."
Genomics 32:289-294(1996) [PubMed] [Europe PMC] [Abstract]

"Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits."
J. Mol. Neurosci. 7:217-228(1996) [PubMed] [Europe PMC] [Abstract]

"Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3 and beta4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32."
FEBS Lett. 400:309-314(1997) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 20."
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"RIC-3 enhances functional expression of multiple nicotinic acetylcholine receptor subtypes in mammalian cells."
Mol. Pharmacol. 68:1431-1438(2005) [PubMed] [Europe PMC] [Abstract]

"NMR structures of the transmembrane domains of the alpha4beta2 nAChR."
Biochim. Biophys. Acta 1818:1261-1268(2012) [PubMed] [Europe PMC] [Abstract]

"A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy."
Nat. Genet. 11:201-203(1995) [PubMed] [Europe PMC] [Abstract]

"A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy."
Neurology 53:1749-1753(1999) [PubMed] [Europe PMC] [Abstract]

"A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation."
Arch. Neurol. 60:1625-1632(2003) [PubMed] [Europe PMC] [Abstract]