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6wx6

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==Cryo-EM Structure of Human Apoferritin Light Chain Vitrified Using Back-it-up==
==Cryo-EM Structure of Human Apoferritin Light Chain Vitrified Using Back-it-up==
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<StructureSection load='6wx6' size='340' side='right'caption='[[6wx6]]' scene=''>
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<StructureSection load='6wx6' size='340' side='right'caption='[[6wx6]], [[Resolution|resolution]] 2.00&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6WX6 OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=6WX6 FirstGlance]. <br>
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<table><tr><td colspan='2'>[[6wx6]] is a 24 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=6WX6 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6WX6 FirstGlance]. <br>
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</td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=6wx6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6wx6 OCA], [http://pdbe.org/6wx6 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6wx6 RCSB], [http://www.ebi.ac.uk/pdbsum/6wx6 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6wx6 ProSAT]</span></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">Electron Microscopy, [[Resolution|Resolution]] 2&#8491;</td></tr>
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene></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=6wx6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6wx6 OCA], [https://pdbe.org/6wx6 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6wx6 RCSB], [https://www.ebi.ac.uk/pdbsum/6wx6 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6wx6 ProSAT]</span></td></tr>
</table>
</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/FRIL_HUMAN FRIL_HUMAN] Defects in FTL are the cause of hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:[https://omim.org/entry/600886 600886]. It is an autosomal dominant disease characterized by early-onset bilateral cataract. Affected patients have elevated level of circulating ferritin. HHCS is caused by mutations in the iron responsive element (IRE) of the FTL gene.<ref>PMID:20159981</ref> Defects in FTL are the cause of neurodegeneration with brain iron accumulation type 3 (NBIA3) [MIM:[https://omim.org/entry/606159 606159]; also known as adult-onset basal ganglia disease. It is a movement disorder with heterogeneous presentations starting in the fourth to sixth decade. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels.<ref>PMID:20159981</ref> <ref>PMID:16116125</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/FRIL_HUMAN FRIL_HUMAN] Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity).<ref>PMID:19923220</ref> <ref>PMID:20159981</ref>
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==See Also==
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*[[Ferritin 3D structures|Ferritin 3D structures]]
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== References ==
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<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Rubinstein JL]]
[[Category: Rubinstein JL]]
[[Category: Tan YZ]]
[[Category: Tan YZ]]

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Cryo-EM Structure of Human Apoferritin Light Chain Vitrified Using Back-it-up

PDB ID 6wx6

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