5d6b: Difference between revisions
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New page: '''Unreleased structure''' The entry 5d6b is ON HOLD Authors: Pereira de Padua, R.A., Nonato, M.C. Description: Human fumarase (wild type) Category: Unreleased Structures [[Categor... |
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==Human fumarase (wild type)== | |||
<StructureSection load='5d6b' size='340' side='right'caption='[[5d6b]], [[Resolution|resolution]] 2.10Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[5d6b]] is a 1 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=5D6B OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5D6B FirstGlance]. <br> | |||
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.1Å</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=5d6b FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5d6b OCA], [https://pdbe.org/5d6b PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5d6b RCSB], [https://www.ebi.ac.uk/pdbsum/5d6b PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5d6b ProSAT]</span></td></tr> | |||
</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 == | |||
[[Category: | <references/> | ||
[[Category: | __TOC__ | ||
[[Category: | </StructureSection> | ||
[[Category: Homo sapiens]] | |||
[[Category: Large Structures]] | |||
[[Category: Nonato MC]] | |||
[[Category: Pereira de Padua RA]] | |||