nicotinic receptor epsilon; acetylcholine receptor subunit epsilon (CHRNE, ACHRE)

Function

• nicotinic receptor subunit (muscle)
• subunit of nicotinic receptor (muscle), a pentamer of two alpha chains, & one each of the beta, delta, & gamma (in immature muscle) or epsilon (in mature muscle) chains

Structure

• belongs to the ligand-gated ionic channel (TC 1.A.9) family

Compartment

• cell junction, synapse, postsynaptic cell membrane

Pathology

• muscle nicotinic receptor is the major target antigen in the autoimmune disease myasthenia gravis
• defects in CHRNE are a cause of
  • congenital myasthenic syndrome slow-channel type
  • congenital myasthenic syndrome fast-channel type
  • congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS)

More general terms

• transmembrane 4e protein
• ionotropic receptor subunit
• glycoprotein
• phosphoprotein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1145
• OMIM: https://mirror.omim.org/entry/100725
• OMIM: https://mirror.omim.org/entry/254200
• OMIM: https://mirror.omim.org/entry/601462
• OMIM: https://mirror.omim.org/entry/608930
• OMIM: https://mirror.omim.org/entry/608931
• UniProt: http://www.uniprot.org/uniprot/Q04844.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1145