6jeh: Difference between revisions
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==Crystal structure of calcium free human gelsolin amyloid mutant D187Y== | |||
<StructureSection load='6jeh' size='340' side='right'caption='[[6jeh]], [[Resolution|resolution]] 2.95Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[6jeh]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6JEH OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6JEH FirstGlance]. <br> | |||
</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=6jeh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6jeh OCA], [http://pdbe.org/6jeh PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6jeh RCSB], [http://www.ebi.ac.uk/pdbsum/6jeh PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6jeh ProSAT]</span></td></tr> | |||
[[Category: | </table> | ||
== Disease == | |||
[[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> | |||
== Function == | |||
[[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> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Large Structures]] | |||
[[Category: Robinson, R C]] | |||
[[Category: Zorgati, H]] | |||
[[Category: Actin binding protein]] | |||
[[Category: Amyloidosis]] | |||
[[Category: Calcium activation]] | |||
[[Category: Gelsolin]] | |||