Aliases for CHRNA7 Gene
External Ids for CHRNA7 Gene
Previous GeneCards Identifiers for CHRNA7 Gene
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
GeneCards Summary for CHRNA7 Gene
CHRNA7 (Cholinergic Receptor Nicotinic Alpha 7 Subunit) is a Protein Coding gene. Diseases associated with CHRNA7 include Epilepsy, Idiopathic Generalized 7 and Chromosome 15Q13.3 Deletion Syndrome. Among its related pathways are Drug metabolism - cytochrome P450 and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and amyloid-beta binding. An important paralog of this gene is CHRFAM7A.
UniProtKB/Swiss-Prot Summary for CHRNA7 Gene
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is blocked by alpha-bungarotoxin.
Alpha 7 (alpha7) is a subunit of the neuronal nicotinic receptor that can combine to form homomeric receptors. The alpha7 nAChR is prominent in the hippocampus, found on GABAergic interneurons of stratum oriens and stratum radiatum, and on pyramidal neurones.