6jeg

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'''Unreleased structure'''
 
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The entry 6jeg is ON HOLD until Paper Publication
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==Crystal structure of calcium free human gelsolin amyloid mutant G167R==
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<StructureSection load='6jeg' size='340' side='right'caption='[[6jeg]], [[Resolution|resolution]] 2.98&Aring;' scene=''>
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Authors:
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== Structural highlights ==
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<table><tr><td colspan='2'>[[6jeg]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6JEG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6JEG FirstGlance]. <br>
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Description:
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</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene></td></tr>
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[[Category: Unreleased Structures]]
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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=6jeg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6jeg OCA], [http://pdbe.org/6jeg PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6jeg RCSB], [http://www.ebi.ac.uk/pdbsum/6jeg PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6jeg ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[[http://www.uniprot.org/uniprot/GELS_HUMAN GELS_HUMAN]] Defects in GSN are the cause of amyloidosis type 5 (AMYL5) [MIM:[http://omim.org/entry/105120 105120]]; also known as familial amyloidosis Finnish type. AMYL5 is a hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.<ref>PMID:2157434</ref> <ref>PMID:2153578</ref> <ref>PMID:2176481</ref> <ref>PMID:1338910</ref>
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== Function ==
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[[http://www.uniprot.org/uniprot/GELS_HUMAN GELS_HUMAN]] Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis.<ref>PMID:20393563</ref>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
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[[Category: Large Structures]]
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[[Category: Robinson, R C]]
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[[Category: Zorgati, H]]
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[[Category: Actin binding protein]]
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[[Category: Amyloidosis]]
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[[Category: Calcium activation]]
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[[Category: Gelsolin]]

Revision as of 05:36, 12 June 2019

Crystal structure of calcium free human gelsolin amyloid mutant G167R

PDB ID 6jeg

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