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Gene : CHRNA7 Homo sapiens

Name  ? cholinergic receptor nicotinic alpha 7 subunit Cytological Location  15q13.3
Brief Description  cholinergic receptor nicotinic alpha 7 subunit
description  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]
  • synonyms:
  • HGNC:1960,
  • Z23141,
  • CHRNA7-2,
  • CHRNA7,
  • uc001zft.5,
  • acetylcholine receptor, nicotinic, alpha 7 (neuronal),
  • OTTHUMG00000129285,
  • cholinergic receptor, nicotinic, alpha 7 (neuronal),
  • NACHRA7,
  • cholinergic receptor, nicotinic alpha 7,
  • cholinergic receptor, nicotinic, alpha polypeptide 7,
  • NM_000746
  • identifiers:
  • 1139,
  • ENSG00000175344,
  • CHRNA7

Genome feature

Region: gene ? Length: 142060  
Location: 15:32030462-32172521 Cyto location: 15q13.3


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Disease

1 Diseases

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Expression

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Other

732 SN Ps

5 Cross References

17 Data Sets

74 Homologues

0 Located Features

90 Rna Seq Results