6ebt: Difference between revisions

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New page: '''Unreleased structure''' The entry 6ebt is ON HOLD Authors: Ajalla, M.A.A., Nonato, M.C. Description: Crystal structure of recombinant mutant N107T of human fumarase [[Category: Unre...
 
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'''Unreleased structure'''


The entry 6ebt is ON HOLD
==Crystal structure of recombinant mutant N107T of human fumarase==
<StructureSection load='6ebt' size='340' side='right'caption='[[6ebt]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[6ebt]] 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=6EBT OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6EBT 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]] 2.3&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</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=6ebt FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6ebt OCA], [https://pdbe.org/6ebt PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6ebt RCSB], [https://www.ebi.ac.uk/pdbsum/6ebt PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6ebt 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.


Authors: Ajalla, M.A.A., Nonato, M.C.
==See Also==
 
*[[Fumarase|Fumarase]]
Description: Crystal structure of recombinant mutant N107T of human fumarase
== References ==
[[Category: Unreleased Structures]]
<references/>
[[Category: Ajalla, M.A.A]]
__TOC__
[[Category: Nonato, M.C]]
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Ajalla MAA]]
[[Category: Nonato MC]]

Latest revision as of 09:23, 11 October 2023

Crystal structure of recombinant mutant N107T of human fumaraseCrystal structure of recombinant mutant N107T of human fumarase

Structural highlights

6ebt is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:X-ray diffraction, Resolution 2.3Å
Ligands:
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

FUMH_HUMAN Defects in FH are the cause of fumarase deficiency (FHD) [MIM:606812; also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.[:][1] Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800. A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.[2]

Function

FUMH_HUMAN Also acts as a tumor suppressor.

See Also

References

  1. ↑ Coughlin EM, Christensen E, Kunz PL, Krishnamoorthy KS, Walker V, Dennis NR, Chalmers RA, Elpeleg ON, Whelan D, Pollitt RJ, Ramesh V, Mandell R, Shih VE. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab. 1998 Apr;63(4):254-62. PMID:9635293 doi:S1096-7192(98)92684-1
  2. ↑ Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomaki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet. 2002 Apr;30(4):406-10. Epub 2002 Feb 25. PMID:11865300 doi:10.1038/ng849

6ebt, resolution 2.30Å

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