6up8: Difference between revisions
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==Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure== | ==Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure== | ||
<StructureSection load='6up8' size='340' side='right'caption='[[6up8]]' scene=''> | <StructureSection load='6up8' size='340' side='right'caption='[[6up8]], [[Resolution|resolution]] 2.00Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6UP8 OCA]. For a <b>guided tour on the structure components</b> use [ | <table><tr><td colspan='2'>[[6up8]] 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=6UP8 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6UP8 FirstGlance]. <br> | ||
</td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2Å</td></tr> | ||
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=IPA:ISOPROPYL+ALCOHOL'>IPA</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=6up8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6up8 OCA], [https://pdbe.org/6up8 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6up8 RCSB], [https://www.ebi.ac.uk/pdbsum/6up8 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6up8 ProSAT]</span></td></tr> | |||
</table> | </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] | |||
==See Also== | |||
*[[Triose phosphate isomerase 3D structures|Triose phosphate isomerase 3D structures]] | |||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | |||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Romero JM]] | [[Category: Romero JM]] | ||
Latest revision as of 14:57, 13 March 2024
Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure
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