7uxb
From Proteopedia
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| - | '''Unreleased structure''' | ||
| - | + | ==Human triosephosphate isomerase mutant G122R== | |
| - | + | <StructureSection load='7uxb' size='340' side='right'caption='[[7uxb]], [[Resolution|resolution]] 2.00Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[7uxb]] 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=7UXB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7UXB FirstGlance]. <br> | |
| - | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=IPA:ISOPROPYL+ALCOHOL'>IPA</scene></td></tr> | |
| - | [[Category: | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7uxb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7uxb OCA], [https://pdbe.org/7uxb PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7uxb RCSB], [https://www.ebi.ac.uk/pdbsum/7uxb PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7uxb ProSAT]</span></td></tr> |
| + | </table> | ||
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/TPIS_HUMAN TPIS_HUMAN] Defects in TPI1 are the cause of triosephosphate isomerase deficiency (TPI deficiency) [MIM:[https://omim.org/entry/190450 190450]. TPI deficiency is an autosomal recessive disorder. It is the most severe clinical disorder of glycolysis. It is associated with neonatal jaundice, chronic hemolytic anemia, progressive neuromuscular dysfunction, cardiomyopathy and increased susceptibility to infection. | ||
| + | == Function == | ||
| + | [https://www.uniprot.org/uniprot/TPIS_HUMAN TPIS_HUMAN] | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Homo sapiens]] | ||
| + | [[Category: Large Structures]] | ||
| + | [[Category: Romero JM]] | ||
Revision as of 03:58, 25 May 2023
Human triosephosphate isomerase mutant G122R
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