2le7: Difference between revisions

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[[Image:2le7.jpg|left|200px]]
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{{STRUCTURE_2le7|  PDB=2le7  |  SCENE=  }}  
{{STRUCTURE_2le7|  PDB=2le7  |  SCENE=  }}  
===Solution nmr structure of the S4S5 linker of herg potassium channel===
===Solution nmr structure of the S4S5 linker of herg potassium channel===
{{ABSTRACT_PUBMED_22359612}}


==Disease==
[[http://www.uniprot.org/uniprot/KCNH2_HUMAN KCNH2_HUMAN]] Defects in KCNH2 are the cause of long QT syndrome type 2 (LQT2) [MIM:[http://omim.org/entry/613688 613688]]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress. Deafness is often associated with LQT2.<ref>PMID:16361248</ref><ref>PMID:9600240</ref><ref>PMID:7889573</ref><ref>PMID:8914737</ref><ref>PMID:8635257</ref><ref>PMID:8877771</ref><ref>PMID:9024139</ref><ref>PMID:9693036</ref><ref>PMID:9544837</ref><ref>PMID:9452080</ref><ref>PMID:10086971</ref><ref>PMID:10220144</ref><ref>PMID:10187793</ref><ref>PMID:10517660</ref><ref>PMID:10735633</ref><ref>PMID:10973849</ref><ref>PMID:10862094</ref><ref>PMID:10753933</ref><ref>PMID:12062363</ref><ref>PMID:12354768</ref><ref>PMID:12621127</ref><ref>PMID:15051636</ref><ref>PMID:15840476</ref><ref>PMID:22314138</ref>  Defects in KCNH2 are the cause of short QT syndrome type 1 (SQT1) [MIM:[http://omim.org/entry/609620 609620]]. Short QT syndromes are heart disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. They cause syncope and sudden death.<ref>PMID:14676148</ref><ref>PMID:15828882</ref>


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==Function==
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[[http://www.uniprot.org/uniprot/KCNH2_HUMAN KCNH2_HUMAN]] Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr). Isoform 3 has no channel activity by itself, but modulates channel characteristics when associated with isoform 1.  
(as it appears on PubMed at http://www.pubmed.gov), where 22359612 is the PubMed ID number.
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{{ABSTRACT_PUBMED_22359612}}


==About this Structure==
==About this Structure==
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==Reference==
==Reference==
<ref group="xtra">PMID:022359612</ref><references group="xtra"/>
<ref group="xtra">PMID:022359612</ref><references group="xtra"/><references/>
[[Category: Kuchel, P W.]]
[[Category: Kuchel, P W.]]
[[Category: Ng, C A.]]
[[Category: Ng, C A.]]
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