2wl1
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2wl1]] 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=2WL1 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2WL1 FirstGlance]. <br> | <table><tr><td colspan='2'>[[2wl1]] 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=2WL1 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2WL1 FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=SCN:THIOCYANATE+ION'>SCN</scene>< | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=SCN:THIOCYANATE+ION'>SCN</scene></td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2wl1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2wl1 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2wl1 RCSB], [http://www.ebi.ac.uk/pdbsum/2wl1 PDBsum]</span></td></tr> | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2wl1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2wl1 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2wl1 RCSB], [http://www.ebi.ac.uk/pdbsum/2wl1 PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/MEFV_HUMAN MEFV_HUMAN]] Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF) [MIM:[http://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:[http://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. | [[http://www.uniprot.org/uniprot/MEFV_HUMAN MEFV_HUMAN]] Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF) [MIM:[http://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:[http://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. | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Gruetter, M G | + | [[Category: Gruetter, M G]] |
| - | [[Category: Mittl, P R | + | [[Category: Mittl, P R]] |
| - | [[Category: Weinert, C | + | [[Category: Weinert, C]] |
[[Category: Actin-binding inflammatory response]] | [[Category: Actin-binding inflammatory response]] | ||
[[Category: Amyloidosis]] | [[Category: Amyloidosis]] | ||
Revision as of 10:15, 20 January 2015
PYRIN PRYSPRY DOMAIN
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