4d8o: Difference between revisions

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[[Image:4d8o.jpg|left|200px]]
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{{STRUCTURE_4d8o|  PDB=4d8o  |  SCENE=  }}  
{{STRUCTURE_4d8o|  PDB=4d8o  |  SCENE=  }}  
===Crystal Structure of the ankyrin-B ZU5-ZU5-UPA-DD tandem===
===Crystal Structure of the ankyrin-B ZU5-ZU5-UPA-DD tandem===
{{ABSTRACT_PUBMED_22411828}}


==Disease==
[[http://www.uniprot.org/uniprot/ANK2_HUMAN ANK2_HUMAN]] Romano-Ward syndrome. Long QT syndrome 4 (LQT4) [MIM:[http://omim.org/entry/600919 600919]]: A heart disorder 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, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:12571597</ref> <ref>PMID:15178757</ref> 


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==Function==
The line below this paragraph, {{ABSTRACT_PUBMED_22411828}}, adds the Publication Abstract to the page
[[http://www.uniprot.org/uniprot/ANK2_HUMAN ANK2_HUMAN]] In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions (By similarity). Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptors. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate.<ref>PMID:12571597</ref> 
(as it appears on PubMed at http://www.pubmed.gov), where 22411828 is the PubMed ID number.
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{{ABSTRACT_PUBMED_22411828}}


==About this Structure==
==About this Structure==
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==Reference==
==Reference==
<ref group="xtra">PMID:022411828</ref><references group="xtra"/>
<ref group="xtra">PMID:022411828</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Wang, C.]]
[[Category: Wang, C.]]
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