3hx7

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Image:3hx7.png

Template:STRUCTURE 3hx7

Contents

Crystal structure of human ferritin Phe167SerfsX26 mutant. This file is a part 3/3 of the split entry and contains the copies 5 and 6 of the total six copies of the biological unit that are present in the crystallographic asymmetric unit. The entire structure contains six copies of the biological unit in the crystallographic asymmetric unit and is described in remark 400

Template:ABSTRACT PUBMED 19923220

Disease

Known disease associated with this structure: Basal ganglia disease, adult-onset OMIM:[134790], Hyperferritinemia-cataract syndrome OMIM:[134790]

About this Structure

3HX7 is a 48 chains structure with sequences from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Baraibar MA, Muhoberac BB, Garringer HJ, Hurley TD, Vidal R. Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration. J Biol Chem. 2010 Jan 15;285(3):1950-6. Epub 2009 Nov 18. PMID:19923220 doi:10.1074/jbc.M109.042986
  • Baraibar MA, Barbeito AG, Muhoberac BB, Vidal R. Iron-mediated aggregation and a localized structural change characterize ferritin from a mutant light chain polypeptide that causes neurodegeneration. J Biol Chem. 2008 Nov 14;283(46):31679-89. Epub 2008 Aug 28. PMID:18755684 doi:10.1074/jbc.M805532200

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