6ebt
From Proteopedia
(Difference between revisions)
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| - | '''Unreleased structure''' | ||
| - | + | ==Crystal structure of recombinant mutant N107T of human fumarase== | |
| - | + | <StructureSection load='6ebt' size='340' side='right'caption='[[6ebt]], [[Resolution|resolution]] 2.30Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[6ebt]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6EBT OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6EBT FirstGlance]. <br> | |
| - | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</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: Ajalla, M | + | <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=6ebt FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6ebt OCA], [http://pdbe.org/6ebt PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6ebt RCSB], [http://www.ebi.ac.uk/pdbsum/6ebt PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6ebt ProSAT]</span></td></tr> |
| - | [[Category: Nonato, M | + | </table> |
| + | == Disease == | ||
| + | [[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> | ||
| + | == Function == | ||
| + | [[http://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN]] Also acts as a tumor suppressor. | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Fumarate hydratase]] | ||
| + | [[Category: Large Structures]] | ||
| + | [[Category: Ajalla, M A.A]] | ||
| + | [[Category: Nonato, M C]] | ||
| + | [[Category: Hsfh]] | ||
| + | [[Category: Lyase]] | ||
Revision as of 05:50, 21 August 2019
Crystal structure of recombinant mutant N107T of human fumarase
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