| Entrez gene ID | | 1139 |
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| Official gene symbol | | CHRNA7 |
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| Full name | | cholinergic receptor, nicotinic, alpha 7 |
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| Aliases | | ,CHRNA7-2,NACHRA7, |
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| Gene summary | | 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
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| Location | | Chromosome: 15 Locus: 15q14 |
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| Gene position | | 32322691 - 32462384 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 139694 bp |
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| Gene sequence |
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| OMIM ID | | 118511 |
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