2mpc
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2mpc]] is a 1 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2MPC OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2MPC FirstGlance]. <br> | <table><tr><td colspan='2'>[[2mpc]] is a 1 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2MPC OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2MPC FirstGlance]. <br> | ||
| - | </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=2mpc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mpc OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2mpc RCSB], [http://www.ebi.ac.uk/pdbsum/2mpc PDBsum]</span></td></tr> | + | </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=2mpc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mpc OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2mpc RCSB], [http://www.ebi.ac.uk/pdbsum/2mpc 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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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
| - | [[Category: Hill, J M | + | [[Category: Hill, J M]] |
| - | [[Category: Smith, S J | + | [[Category: Smith, S J]] |
| - | [[Category: Soh, S L | + | [[Category: Soh, S L]] |
[[Category: Cs-rosetta]] | [[Category: Cs-rosetta]] | ||
[[Category: Death domain]] | [[Category: Death domain]] | ||
Revision as of 12:59, 5 January 2015
Solution structure of the pyrin domain of human Pyrin
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