5j5z
From Proteopedia
(Difference between revisions)
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| - | '''Unreleased structure''' | ||
| - | + | ==Crystal structure of the D444V disease-causing mutant of the human dihydrolipoamide dehydrogenase== | |
| - | + | <StructureSection load='5j5z' size='340' side='right' caption='[[5j5z]], [[Resolution|resolution]] 1.84Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[5j5z]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5J5Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5J5Z FirstGlance]. <br> | |
| - | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=FAD:FLAVIN-ADENINE+DINUCLEOTIDE'>FAD</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</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/Dihydrolipoyl_dehydrogenase Dihydrolipoyl dehydrogenase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.8.1.4 1.8.1.4] </span></td></tr> |
| + | <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=5j5z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5j5z OCA], [http://pdbe.org/5j5z PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5j5z RCSB], [http://www.ebi.ac.uk/pdbsum/5j5z PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5j5z ProSAT]</span></td></tr> | ||
| + | </table> | ||
| + | == Disease == | ||
| + | [[http://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:[http://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. | ||
| + | == Function == | ||
| + | [[http://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. | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Dihydrolipoyl dehydrogenase]] | ||
| + | [[Category: Adam-Vizi, V]] | ||
| + | [[Category: Ambrus, A]] | ||
| + | [[Category: Mizsei, R]] | ||
| + | [[Category: Szabo, E]] | ||
| + | [[Category: Torocsik, B]] | ||
| + | [[Category: Weiss, M S]] | ||
| + | [[Category: Zambo, Z]] | ||
| + | [[Category: Dihydrolipoamide dehydrogenase]] | ||
| + | [[Category: Disease-causing mutant]] | ||
| + | [[Category: E3 deficiency]] | ||
| + | [[Category: E3 subunit]] | ||
| + | [[Category: Oxidoreductase]] | ||
Revision as of 07:23, 15 November 2017
Crystal structure of the D444V disease-causing mutant of the human dihydrolipoamide dehydrogenase
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