5j5z: Difference between revisions
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==Crystal structure of the D444V disease-causing mutant of the human dihydrolipoamide dehydrogenase== | ==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=''> | <StructureSection load='5j5z' size='340' side='right'caption='[[5j5z]], [[Resolution|resolution]] 1.84Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[5j5z]] is a 2 chain structure with sequence from [ | <table><tr><td colspan='2'>[[5j5z]] 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=5J5Z OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5J5Z FirstGlance]. <br> | ||
</td></tr><tr id=' | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.84Å</td></tr> | ||
<tr id=' | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><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> | ||
< | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=5j5z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5j5z OCA], [https://pdbe.org/5j5z PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5j5z RCSB], [https://www.ebi.ac.uk/pdbsum/5j5z PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5j5z ProSAT]</span></td></tr> | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | |||
</table> | </table> | ||
== Disease == | == Disease == | ||
[ | [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. | ||
== Function == | == Function == | ||
[ | [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. | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||
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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: Adam-Vizi | [[Category: Adam-Vizi V]] | ||
[[Category: Ambrus | [[Category: Ambrus A]] | ||
[[Category: Mizsei | [[Category: Mizsei R]] | ||
[[Category: Szabo | [[Category: Szabo E]] | ||
[[Category: Torocsik | [[Category: Torocsik B]] | ||
[[Category: Weiss | [[Category: Weiss MS]] | ||
[[Category: Zambo | [[Category: Zambo Z]] | ||
Latest revision as of 10:50, 6 September 2023
Crystal structure of the D444V disease-causing mutant of the human dihydrolipoamide dehydrogenase
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