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==Crystal structure of the R460G disease-causing mutant of the human dihydrolipoamide dehydrogenase.== | |||
<StructureSection load='6hg8' size='340' side='right'caption='[[6hg8]], [[Resolution|resolution]] 1.76Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[6hg8]] 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=6HG8 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6HG8 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]] 1.76Å</td></tr> | |||
<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=SO4:SULFATE+ION'>SO4</scene>, <scene name='pdbligand=TRS:2-AMINO-2-HYDROXYMETHYL-PROPANE-1,3-DIOL'>TRS</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=6hg8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6hg8 OCA], [https://pdbe.org/6hg8 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6hg8 RCSB], [https://www.ebi.ac.uk/pdbsum/6hg8 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6hg8 ProSAT]</span></td></tr> | |||
</table> | |||
== 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 == | |||
[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. | |||
==See Also== | |||
*[[Dihydrolipoamide dehydrogenase|Dihydrolipoamide dehydrogenase]] | |||
__TOC__ | |||
[[Category: | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: | [[Category: Adam-Vizi V]] | ||
[[Category: | [[Category: Ambrus A]] | ||
[[Category: | [[Category: Bui D]] | ||
[[Category: Szabo | [[Category: Jordan F]] | ||
[[Category: | [[Category: Montfort WR]] | ||
[[Category: Weichsel | [[Category: Szabo E]] | ||
[[Category: Weiss | [[Category: Torocsik B]] | ||
[[Category: | [[Category: Weichsel A]] | ||
[[Category: Weiss MS]] | |||
[[Category: Wilk P]] | |||
Latest revision as of 08:17, 21 November 2024
Crystal structure of the R460G disease-causing mutant of the human dihydrolipoamide dehydrogenase.Crystal structure of the R460G disease-causing mutant of the human dihydrolipoamide dehydrogenase.
Structural highlights
DiseaseDLDH_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: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. FunctionDLDH_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. See Also |
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