5upp: Difference between revisions
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==Crystal structure of human fumarate hydratase== | |||
<StructureSection load='5upp' size='340' side='right' caption='[[5upp]], [[Resolution|resolution]] 1.80Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[5upp]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5UPP OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5UPP FirstGlance]. <br> | |||
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=EPE:4-(2-HYDROXYETHYL)-1-PIPERAZINE+ETHANESULFONIC+ACID'>EPE</scene></td></tr> | |||
[[Category: | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Fumarate_hydratase Fumarate hydratase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.2.1.2 4.2.1.2] </span></td></tr> | ||
[[Category: Rangel, V | <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=5upp FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5upp OCA], [http://pdbe.org/5upp PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5upp RCSB], [http://www.ebi.ac.uk/pdbsum/5upp PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5upp ProSAT]</span></td></tr> | ||
[[Category: Rustiguel, J | </table> | ||
[[Category: | == Disease == | ||
[[Category: | [[http://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN]] Defects in FH are the cause of fumarase deficiency (FHD) [MIM:[http://omim.org/entry/606812 606812]]; also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.[:]<ref>PMID:9635293</ref> Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:[http://omim.org/entry/150800 150800]]. A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.<ref>PMID:11865300</ref> | ||
[[Category: | == Function == | ||
[[http://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN]] Also acts as a tumor suppressor. | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Fumarate hydratase]] | |||
[[Category: Ajalla, M A]] | |||
[[Category: Nonato, M C]] | |||
[[Category: Padua, R A.Pereira de]] | |||
[[Category: Rangel, V L]] | |||
[[Category: Rustiguel, J K]] | |||
[[Category: Fumarase]] | |||
[[Category: Hsfh]] | |||
[[Category: Lyase]] | |||