2ksr

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Template:STRUCTURE 2ksr

Contents 1 NMR structures of TM domain of the n-Acetylcholine receptor b2 subunit 2 Disease 3 Function 4 About this Structure 5 Reference

NMR structures of TM domain of the n-Acetylcholine receptor b2 subunit

Template:ABSTRACT PUBMED 20441771

Disease

[ACHB2_HUMAN] Defects in CHRNB2 are the cause of nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375]. ENFL3 is an autosomal dominant epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.^[1][2]

Function

[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.^[3]

About this Structure

2ksr is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

• Bondarenko V, Tillman T, Xu Y, Tang P. NMR structure of the transmembrane domain of the n-acetylcholine receptor beta2 subunit. Biochim Biophys Acta. 2010 Aug;1798(8):1608-14. Epub 2010 May 2. PMID:20441771 doi:10.1016/j.bbamem.2010.04.014

1. ↑ De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet. 2000 Nov;26(3):275-6. PMID:11062464 doi:10.1038/81566
2. ↑ Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet. 2001 Jan;68(1):225-31. Epub 2000 Dec 5. PMID:11104662 doi:10.1086/316946
3. ↑ Bondarenko V, Mowrey D, Tillman T, Cui T, Liu LT, Xu Y, Tang P. NMR structures of the transmembrane domains of the alpha4beta2 nAChR. Biochim Biophys Acta. 2012 Feb 14;1818(5):1261-1268. PMID:22361591 doi:10.1016/j.bbamem.2012.02.008