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CHRNA7 cholinergic receptor nicotinic alpha 7 subunit

Gene ID: 1139, updated on 11-Apr-2024
Gene type: protein coding
Also known as: NACHRA7; CHRNA7-2

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2018-05-10)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2018-05-10)

ClinGen Genome Curation Page

Genomic context

Location:
15q13.3
Sequence:
Chromosome: 15; NC_000015.10 (32030483..32173018)
Total number of exons:
13

Links

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