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5a37

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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.==
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<StructureSection load='5a37' size='340' side='right' caption='[[5a37]], [[Resolution|resolution]] 1.88&Aring;' scene=''>
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<StructureSection load='5a37' size='340' side='right'caption='[[5a37]], [[Resolution|resolution]] 1.88&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[5a37]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5A37 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5A37 FirstGlance]. <br>
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<table><tr><td colspan='2'>[[5a37]] 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=5A37 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5A37 FirstGlance]. <br>
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</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[5a36|5a36]], [[5a38|5a38]]</td></tr>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.88&#8491;</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5a37 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5a37 OCA], [http://pdbe.org/5a37 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5a37 RCSB], [http://www.ebi.ac.uk/pdbsum/5a37 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5a37 ProSAT]</span></td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=5a37 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5a37 OCA], [https://pdbe.org/5a37 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5a37 RCSB], [https://www.ebi.ac.uk/pdbsum/5a37 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5a37 ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
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[[http://www.uniprot.org/uniprot/ACTN2_HUMAN ACTN2_HUMAN]] Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA) [MIM:[http://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>
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[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 ==
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[[http://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.
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[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 5a37" style="background-color:#fffaf0;"></div>
<div class="pdbe-citations 5a37" style="background-color:#fffaf0;"></div>
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==See Also==
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*[[Actinin 3D structures|Actinin 3D structures]]
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Edwards, T A]]
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[[Category: Homo sapiens]]
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[[Category: Haywood, N J]]
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[[Category: Large Structures]]
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[[Category: Peckham, M]]
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[[Category: Edwards TA]]
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[[Category: Shuping, Y]]
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[[Category: Haywood NJ]]
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[[Category: Trinh, C H]]
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[[Category: Peckham M]]
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[[Category: Wolny, M]]
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[[Category: Shuping Y]]
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[[Category: Actin-binding protein]]
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[[Category: Trinh CH]]
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[[Category: Calponin homology domain]]
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[[Category: Wolny M]]
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[[Category: Human alpha-actinin-2]]
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Current revision

Mutations in the Calponin homology domain of Alpha-Actinin-2 affect Actin binding and incorporation in muscle.

PDB ID 5a37

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