2ffx: Difference between revisions

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~~[[Image:2ffx.png|left|200px]]~~

===Structure of Human Ferritin L. Chain===

===~~Structure~~ of ~~Human Ferritin L~~. ~~Chain===~~

==Disease==

[[http://www.uniprot.org/uniprot/FRIL_HUMAN FRIL_HUMAN]] Defects in FTL are the cause of hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:[http://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:[http://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>

~~{{ABSTRACT_PUBMED_16790936}}~~

==Function==

[[http://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>

==About this Structure==

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==Reference==

[[Category: Homo sapiens]]

[[Category: Carter, D C.]]

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@@ Line 1: / Line 1: @@
-[[Image:2ffx.png|left|200px]]
 {{STRUCTURE_2ffx|  PDB=2ffx  |  SCENE=  }}
+===Structure of Human Ferritin L. Chain===
+{{ABSTRACT_PUBMED_16790936}}
-===Structure of Human Ferritin L. Chain===
+==Disease==
+[[http://www.uniprot.org/uniprot/FRIL_HUMAN FRIL_HUMAN]] Defects in FTL are the cause of hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:[http://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:[http://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>
-{{ABSTRACT_PUBMED_16790936}}
+==Function==
+[[http://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>
 ==About this Structure==
@@ Line 14: / Line 16: @@
 ==Reference==
-<ref group="xtra">PMID:016790936</ref><references group="xtra"/>
+<ref group="xtra">PMID:016790936</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Carter, D C.]]