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==X-RAY STRUCTURE OF THE canonical C2A DOMAIN FROM HUMAN DYSFERLIN==
==X-RAY STRUCTURE OF THE canonical C2A DOMAIN FROM HUMAN DYSFERLIN==
<StructureSection load='4ihb' size='340' side='right' caption='[[4ihb]], [[Resolution|resolution]] 2.04&Aring;' scene=''>
<StructureSection load='4ihb' size='340' side='right'caption='[[4ihb]], [[Resolution|resolution]] 2.04&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[4ihb]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4IHB OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4IHB FirstGlance]. <br>
<table><tr><td colspan='2'>[[4ihb]] is a 6 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=4IHB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4IHB FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>, <scene name='pdbligand=FMT:FORMIC+ACID'>FMT</scene></td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.044&#8491;</td></tr>
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2dmh|2dmh]], [[3l9b|3l9b]], [[4iqh|4iqh]]</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>, <scene name='pdbligand=FMT:FORMIC+ACID'>FMT</scene></td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">DYSF, FER1L1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=4ihb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4ihb OCA], [https://pdbe.org/4ihb PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4ihb RCSB], [https://www.ebi.ac.uk/pdbsum/4ihb PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4ihb ProSAT]</span></td></tr>
<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=4ihb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4ihb OCA], [http://pdbe.org/4ihb PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4ihb RCSB], [http://www.ebi.ac.uk/pdbsum/4ihb PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4ihb ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/DYSF_HUMAN DYSF_HUMAN]] Miyoshi myopathy;Distal myopathy with anterior tibial onset;Congenital myopathy, Paradas type;Autosomal recessive limb-girdle muscular dystrophy type 2B. The disease is caused by mutations affecting the gene represented in this entry.  The disease is caused by mutations affecting the gene represented in this entry.  The disease is caused by mutations affecting the gene represented in this entry.  
[https://www.uniprot.org/uniprot/DYSF_HUMAN DYSF_HUMAN] Miyoshi myopathy;Distal myopathy with anterior tibial onset;Congenital myopathy, Paradas type;Autosomal recessive limb-girdle muscular dystrophy type 2B. The disease is caused by mutations affecting the gene represented in this entry.  The disease is caused by mutations affecting the gene represented in this entry.  The disease is caused by mutations affecting the gene represented in this entry.
== Function ==
== Function ==
[[http://www.uniprot.org/uniprot/DYSF_HUMAN DYSF_HUMAN]] Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity).  
[https://www.uniprot.org/uniprot/DYSF_HUMAN DYSF_HUMAN] Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity).
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== Publication Abstract from PubMed ==
== Publication Abstract from PubMed ==
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Fuson, K L]]
[[Category: Large Structures]]
[[Category: Sutton, R B]]
[[Category: Fuson KL]]
[[Category: Beta sandwich]]
[[Category: Sutton RB]]
[[Category: Membrane protein]]
[[Category: Membrane repair]]
[[Category: Muscular dystrophy]]
[[Category: Plasma membrane]]
[[Category: Type ii c2 domain]]

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