7psc

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'''Unreleased structure'''
 
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The entry 7psc is ON HOLD until Paper Publication
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==Crystal structure of the disease-causing I358T mutant of the human dihydrolipoamide dehydrogenase==
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<StructureSection load='7psc' size='340' side='right'caption='[[7psc]], [[Resolution|resolution]] 2.44&Aring;' scene=''>
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Authors:
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== Structural highlights ==
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<table><tr><td colspan='2'>[[7psc]] 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=7PSC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7PSC FirstGlance]. <br>
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Description:
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</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=BTB:2-[BIS-(2-HYDROXY-ETHYL)-AMINO]-2-HYDROXYMETHYL-PROPANE-1,3-DIOL'>BTB</scene>, <scene name='pdbligand=FAD:FLAVIN-ADENINE+DINUCLEOTIDE'>FAD</scene></td></tr>
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[[Category: Unreleased Structures]]
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7psc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7psc OCA], [https://pdbe.org/7psc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7psc RCSB], [https://www.ebi.ac.uk/pdbsum/7psc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7psc ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/DLDH_HUMAN DLDH_HUMAN] Note=Defects in DLD are involved in the development of congenital infantile lactic acidosis. Defects in DLD are a cause of maple syrup urine disease (MSUD) [MIM:[https://omim.org/entry/248600 248600]. MSUD is characterized by mental and physical retardation, feeding problems and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine, resulting from a block in oxidative decarboxylation.
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== Function ==
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[https://www.uniprot.org/uniprot/DLDH_HUMAN DLDH_HUMAN] Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction.
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__TOC__
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</StructureSection>
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[[Category: Homo sapiens]]
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[[Category: Large Structures]]
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[[Category: Adam-Vizi V]]
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[[Category: Ambrus A]]
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[[Category: Nemes-Nikodem E]]
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[[Category: Szabo E]]
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[[Category: Taberman H]]
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[[Category: Torocsik B]]
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[[Category: Vass KR]]
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[[Category: Weiss MS]]
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[[Category: Zambo Z]]

Revision as of 06:21, 7 April 2023

Crystal structure of the disease-causing I358T mutant of the human dihydrolipoamide dehydrogenase

PDB ID 7psc

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OCA

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