View source for 8piu


==60-meric complex of dihydrolipoamide acetyltransferase (E2) of the human pyruvate dehydrogenase complex==
<StructureSection load='8piu' size='340' side='right'caption='[[8piu]], [[Resolution|resolution]] 2.90&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[8piu]] is a 60 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=8PIU OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8PIU FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 2.9&#8491;</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=8piu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8piu OCA], [https://pdbe.org/8piu PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8piu RCSB], [https://www.ebi.ac.uk/pdbsum/8piu PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8piu ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/ODP2_HUMAN ODP2_HUMAN] Note=Primary biliary cirrhosis is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients' serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. Patients with primary biliary cirrhosis show autoantibodies against the E2 component of pyruvate dehydrogenase complex.  Defects in DLAT are the cause of pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:[https://omim.org/entry/245348 245348]; also known as lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex. Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent.
== Function ==
[https://www.uniprot.org/uniprot/ODP2_HUMAN ODP2_HUMAN] The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Afanasyev P]]
[[Category: Boehringer D]]
[[Category: Glockshuber R]]
[[Category: Zdanowicz R]]