6v8f
From Proteopedia
(Difference between revisions)
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==Crystal structure of recombinat mutant Q185R of human fumarase== | ==Crystal structure of recombinat mutant Q185R of human fumarase== | ||
| - | <StructureSection load='6v8f' size='340' side='right'caption='[[6v8f]]' scene=''> | + | <StructureSection load='6v8f' size='340' side='right'caption='[[6v8f]], [[Resolution|resolution]] 2.30Å' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6V8F OCA]. For a <b>guided tour on the structure components</b> use [ | + | <table><tr><td colspan='2'>[[6v8f]] is a 2 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=6V8F OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6V8F FirstGlance]. <br> |
| - | </td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.3Å</td></tr> |
| + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</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=6v8f FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6v8f OCA], [https://pdbe.org/6v8f PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6v8f RCSB], [https://www.ebi.ac.uk/pdbsum/6v8f PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6v8f ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN] Defects in FH are the cause of fumarase deficiency (FHD) [MIM:[https://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:[https://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 == | ||
| + | [https://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN] Also acts as a tumor suppressor. | ||
| + | |||
| + | ==See Also== | ||
| + | *[[Fumarase|Fumarase]] | ||
| + | == References == | ||
| + | <references/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
| + | [[Category: Homo sapiens]] | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Ajalla MAA]] | [[Category: Ajalla MAA]] | ||
[[Category: Nonato MC]] | [[Category: Nonato MC]] | ||
Current revision
Crystal structure of recombinat mutant Q185R of human fumarase
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