View source for 9r74


==Pyrin B30.2 domain, FMF mutation I641F==
<StructureSection load='9r74' size='340' side='right'caption='[[9r74]], [[Resolution|resolution]] 2.00&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9r74]] is a 1 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=9R74 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9R74 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]] 2&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ACT:ACETATE+ION'>ACT</scene>, <scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=SCN:THIOCYANATE+ION'>SCN</scene></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=9r74 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9r74 OCA], [https://pdbe.org/9r74 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9r74 RCSB], [https://www.ebi.ac.uk/pdbsum/9r74 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9r74 ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/MEFV_HUMAN MEFV_HUMAN] Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF) [MIM:[https://omim.org/entry/249100 249100]. ARFMF is an inherited disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. ARFMF is frequently complicated by amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. ARFMF primarily affects ancestral ethnic groups living around the Mediterranean basin: North African Jews, Armenians, Arabs and Turks. The disease is also distributed in other populations including Greeks, Cypriots, Italians and Spanish, although at a lower prevalence.<ref>PMID:9288758</ref> <ref>PMID:9288094</ref> <ref>PMID:11470495</ref> <ref>PMID:12384939</ref> <ref>PMID:9668175</ref> <ref>PMID:10024914</ref> <ref>PMID:10090880</ref> <ref>PMID:10364520</ref> <ref>PMID:10234504</ref> <ref>PMID:10612841</ref> <ref>PMID:10854105</ref> <ref>PMID:10842288</ref> <ref>PMID:15024744</ref> <ref>PMID:16378925</ref> <ref>PMID:16730661</ref>   Defects in MEFV are the cause of familial Mediterranean fever autosomal dominant (ADFMF) [MIM:[https://omim.org/entry/134610 134610]. ADFMF is characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with renal amyloidosis and characterized by colchicine unresponsiveness.
== Function ==
[https://www.uniprot.org/uniprot/MEFV_HUMAN MEFV_HUMAN] Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization.<ref>PMID:10807793</ref> <ref>PMID:11468188</ref> 
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Mittl P]]
[[Category: Possner D]]