2k59: Difference between revisions
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{{STRUCTURE_2k59| PDB=2k59 | SCENE= }} | {{STRUCTURE_2k59| PDB=2k59 | SCENE= }} | ||
===NMR structures of the second transmembrane domain of the neuronal acetylcholine receptor beta 2 subunit=== | |||
{{ABSTRACT_PUBMED_14596621}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ACHB2_HUMAN ACHB2_HUMAN]] Defects in CHRNB2 are the cause of nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:[http://omim.org/entry/605375 605375]]. ENFL3 is an autosomal dominant epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.<ref>PMID:11062464</ref><ref>PMID:11104662</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ACHB2_HUMAN ACHB2_HUMAN]] After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodiun ions.<ref>PMID:22361591</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:014596621</ref><references group="xtra"/> | <ref group="xtra">PMID:014596621</ref><references group="xtra"/><references/> | ||
[[Category: Bondarenko, V.]] | [[Category: Bondarenko, V.]] | ||
[[Category: Tang, P.]] | [[Category: Tang, P.]] | ||
