View source for 9ho4


==Crystal Structure of the Human Frataxin protein in complex with a tailored Camelid Nanobody 6B1==
<StructureSection load='9ho4' size='340' side='right'caption='[[9ho4]], [[Resolution|resolution]] 1.76&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9ho4]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] and [https://en.wikipedia.org/wiki/Lama_glama Lama glama]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=9HO4 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9HO4 FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.76&#8491;</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=9ho4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9ho4 OCA], [https://pdbe.org/9ho4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9ho4 RCSB], [https://www.ebi.ac.uk/pdbsum/9ho4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9ho4 ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/FRDA_HUMAN FRDA_HUMAN] Defects in FXN are the cause of Friedreich ataxia (FRDA) [MIM:[https://omim.org/entry/229300 229300]. FRDA is an autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region.[:][:]<ref>PMID:9150176</ref> <ref>PMID:9779809</ref> <ref>PMID:10732799</ref> <ref>PMID:9989622</ref> [:]<ref>PMID:10874325</ref> <ref>PMID:19629184</ref> 
== Function ==
[https://www.uniprot.org/uniprot/FRDA_HUMAN FRDA_HUMAN] Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1.<ref>PMID:20053667</ref> <ref>PMID:11823441</ref> <ref>PMID:12755598</ref> <ref>PMID:12785837</ref> <ref>PMID:15123683</ref> <ref>PMID:15247478</ref> <ref>PMID:15641778</ref> <ref>PMID:16239244</ref> <ref>PMID:16608849</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Lama glama]]
[[Category: Large Structures]]
[[Category: Garay-Alvarez A]]
[[Category: Hermoso JA]]
[[Category: Molina R]]