6z1x

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==Crystal structure of human steroid carrier protein SL (SCP-2L) mutant V83C==
==Crystal structure of human steroid carrier protein SL (SCP-2L) mutant V83C==
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<StructureSection load='6z1x' size='340' side='right'caption='[[6z1x]]' scene=''>
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<StructureSection load='6z1x' size='340' side='right'caption='[[6z1x]], [[Resolution|resolution]] 2.09&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6Z1X OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6Z1X FirstGlance]. <br>
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<table><tr><td colspan='2'>[[6z1x]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6Z1X OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6Z1X FirstGlance]. <br>
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</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=6z1x FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6z1x OCA], [https://pdbe.org/6z1x PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6z1x RCSB], [https://www.ebi.ac.uk/pdbsum/6z1x PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6z1x ProSAT]</span></td></tr>
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</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=OXN:OXTOXYNOL-10'>OXN</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
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<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">HSD17B4, EDH17B4, SDR8C1 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6z1x FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6z1x OCA], [https://pdbe.org/6z1x PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6z1x RCSB], [https://www.ebi.ac.uk/pdbsum/6z1x PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6z1x ProSAT]</span></td></tr>
</table>
</table>
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== Disease ==
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[[https://www.uniprot.org/uniprot/DHB4_HUMAN DHB4_HUMAN]] Defects in HSD17B4 are a cause of D-bifunctional protein deficiency (DBPD) [MIM:[https://omim.org/entry/261515 261515]]. DBPD is a disorder of peroxisomal fatty acid beta-oxidation.<ref>PMID:9482850</ref> <ref>PMID:10400999</ref> <ref>PMID:11743515</ref> Defects in HSD17B4 are the cause of Perrault syndrome (PRLTS1) [MIM:[https://omim.org/entry/233400 233400]]. A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.<ref>PMID:20673864</ref>
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== Function ==
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[[https://www.uniprot.org/uniprot/DHB4_HUMAN DHB4_HUMAN]] Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.<ref>PMID:9089413</ref> <ref>PMID:8902629</ref>
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== References ==
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<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Human]]
[[Category: Large Structures]]
[[Category: Large Structures]]
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[[Category: Janssen DB]]
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[[Category: Janssen, D B]]
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[[Category: Rozeboom HJ]]
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[[Category: Rozeboom, H J]]
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[[Category: Alfa-beta fold]]
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[[Category: Hydrophobic tunnel]]
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[[Category: Oxidoreductase]]
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[[Category: Protein-triton x-100 complex]]

Revision as of 09:34, 15 September 2021

Crystal structure of human steroid carrier protein SL (SCP-2L) mutant V83C

PDB ID 6z1x

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