3mp4: Difference between revisions
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<StructureSection load='3mp4' size='340' side='right'caption='[[3mp4]], [[Resolution|resolution]] 2.20Å' scene=''> | <StructureSection load='3mp4' size='340' side='right'caption='[[3mp4]], [[Resolution|resolution]] 2.20Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[3mp4]] is a 6 chain structure with sequence from [https://en.wikipedia.org/wiki/ | <table><tr><td colspan='2'>[[3mp4]] is a 6 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=3MP4 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3MP4 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]] 2.2Å</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=3mp4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3mp4 OCA], [https://pdbe.org/3mp4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3mp4 RCSB], [https://www.ebi.ac.uk/pdbsum/3mp4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3mp4 ProSAT]</span></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=3mp4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3mp4 OCA], [https://pdbe.org/3mp4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3mp4 RCSB], [https://www.ebi.ac.uk/pdbsum/3mp4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3mp4 ProSAT]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | == Disease == | ||
[https://www.uniprot.org/uniprot/HMGCL_HUMAN HMGCL_HUMAN] Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:[https://omim.org/entry/246450 246450]; also known as hydroxymethylglutaricaciduria or HL deficiency. An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.<ref>PMID:8798725</ref> <ref>PMID:9463337</ref> <ref>PMID:9784232</ref> <ref>PMID:11129331</ref> <ref>PMID:12746442</ref> <ref>PMID:17173698</ref> <ref>PMID:16601870</ref> <ref>PMID:17459752</ref> <ref>PMID:19036343</ref> <ref>PMID:19177531</ref> | |||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/HMGCL_HUMAN HMGCL_HUMAN] Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism.<ref>PMID:8566388</ref> <ref>PMID:22865860</ref> <ref>PMID:22847177</ref> | |||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Fu | [[Category: Fu Z]] | ||
[[Category: Kim | [[Category: Kim J-JP]] | ||
[[Category: Miziorko | [[Category: Miziorko HM]] | ||
[[Category: Montgomery | [[Category: Montgomery C]] | ||
[[Category: Runquist | [[Category: Runquist JA]] | ||