5a38: Difference between revisions
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==Mutations in the Calponin homology domain of Alpha-Actinin-2 affect Actin binding and incorporation in muscle.== | ==Mutations in the Calponin homology domain of Alpha-Actinin-2 affect Actin binding and incorporation in muscle.== | ||
<StructureSection load='5a38' size='340' side='right' caption='[[5a38]], [[Resolution|resolution]] 1.90Å' scene=''> | <StructureSection load='5a38' size='340' side='right'caption='[[5a38]], [[Resolution|resolution]] 1.90Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[5a38]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5A38 OCA]. For a <b>guided tour on the structure components</b> use [ | <table><tr><td colspan='2'>[[5a38]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5A38 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5A38 FirstGlance]. <br> | ||
</td></tr><tr id=' | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.9Å</td></tr> | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=5a38 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5a38 OCA], [https://pdbe.org/5a38 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5a38 RCSB], [https://www.ebi.ac.uk/pdbsum/5a38 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5a38 ProSAT]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | == Disease == | ||
[ | [https://www.uniprot.org/uniprot/ACTN2_HUMAN ACTN2_HUMAN] Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA) [MIM:[https://omim.org/entry/612158 612158]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.<ref>PMID:14567970</ref> | ||
== Function == | == Function == | ||
[ | [https://www.uniprot.org/uniprot/ACTN2_HUMAN ACTN2_HUMAN] F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||
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</div> | </div> | ||
<div class="pdbe-citations 5a38" style="background-color:#fffaf0;"></div> | <div class="pdbe-citations 5a38" style="background-color:#fffaf0;"></div> | ||
==See Also== | |||
*[[Actinin 3D structures|Actinin 3D structures]] | |||
== References == | == References == | ||
<references/> | <references/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: | [[Category: Edwards TA]] | ||
[[Category: | [[Category: Haywood NJ]] | ||
[[Category: | [[Category: Peckham M]] | ||
[[Category: Shuping Y]] | |||
[[Category: | [[Category: Trinh CH]] | ||
[[Category: | [[Category: Wolny M]] | ||
[[Category: | |||