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CHRNA7
cholinergic receptor, nicotinic, alpha 7 (neuronal)
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.
| Gene Name: | cholinergic receptor, nicotinic, alpha 7 (neuronal) |
| Family/Subfamily: | Ion Channel , Nicotinic acetylcholine receptor |
| Synonyms: | CHRNA7, AChR-alpha7, Acra 7, CHRNA7-2, NAChR alpha 7, NACHRA7, a7nAchR |
| Target Sequences: | NM_000746 NP_000737.1 P36544 |
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