3kxu
From Proteopedia
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===Crystal structure of human ferritin FTL498InsTC pathogenic mutant=== | ===Crystal structure of human ferritin FTL498InsTC pathogenic mutant=== | ||
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==Disease== | ==Disease== | ||
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==About this Structure== | ==About this Structure== | ||
3KXU is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3KXU OCA]. | 3KXU is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3KXU OCA]. | ||
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+ | ==Reference== | ||
+ | <ref group="xtra">PMID:20159981</ref><references group="xtra"/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Arosio, P.]] | [[Category: Arosio, P.]] | ||
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[[Category: Metal binding protein]] | [[Category: Metal binding protein]] | ||
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Revision as of 05:59, 20 May 2010
Contents |
Crystal structure of human ferritin FTL498InsTC pathogenic mutant
Template:ABSTRACT PUBMED 20159981
Disease
Known disease associated with this structure: Basal ganglia disease, adult-onset OMIM:[134790], Hyperferritinemia-cataract syndrome OMIM:[134790]
About this Structure
3KXU is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Luscieti S, Santambrogio P, Langlois d'Estaintot B, Granier T, Cozzi A, Poli M, Gallois B, Finazzi D, Cattaneo A, Levi S, Arosio P. Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation. J Biol Chem. 2010 Apr 16;285(16):11948-57. Epub 2010 Feb 16. PMID:20159981 doi:10.1074/jbc.M109.096404
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