2w8p: Difference between revisions

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<StructureSection load='2w8p' size='340' side='right'caption='[[2w8p]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
<StructureSection load='2w8p' size='340' side='right'caption='[[2w8p]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2w8p]] 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=2W8P OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2W8P FirstGlance]. <br>
<table><tr><td colspan='2'>[[2w8p]] is a 1 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=2W8P OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2W8P 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=SO4:SULFATE+ION'>SO4</scene></td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.3&#8491;</td></tr>
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[2w8n|2w8n]], [[2w8o|2w8o]], [[2w8q|2w8q]], [[2w8r|2w8r]]</div></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=SO4:SULFATE+ION'>SO4</scene></td></tr>
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/Succinate-semialdehyde_dehydrogenase_(NAD(+)) Succinate-semialdehyde dehydrogenase (NAD(+))], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.2.1.24 1.2.1.24] </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=2w8p FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2w8p OCA], [https://pdbe.org/2w8p PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2w8p RCSB], [https://www.ebi.ac.uk/pdbsum/2w8p PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2w8p 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=2w8p FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2w8p OCA], [https://pdbe.org/2w8p PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2w8p RCSB], [https://www.ebi.ac.uk/pdbsum/2w8p PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2w8p ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[https://www.uniprot.org/uniprot/SSDH_HUMAN SSDH_HUMAN]] Defects in ALDH5A1 are the cause of succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:[https://omim.org/entry/271980 271980]]. SSADH deficiency is a rare inborn error in the metabolism of 4-aminobutyric acid (GABA) which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is characterized by severe ataxia and by mildly retarded psychomotor development.  
[https://www.uniprot.org/uniprot/SSDH_HUMAN SSDH_HUMAN] Defects in ALDH5A1 are the cause of succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:[https://omim.org/entry/271980 271980]. SSADH deficiency is a rare inborn error in the metabolism of 4-aminobutyric acid (GABA) which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is characterized by severe ataxia and by mildly retarded psychomotor development.
== Function ==
== Function ==
[[https://www.uniprot.org/uniprot/SSDH_HUMAN SSDH_HUMAN]] Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).<ref>PMID:19300440</ref>
[https://www.uniprot.org/uniprot/SSDH_HUMAN SSDH_HUMAN] Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).<ref>PMID:19300440</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: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Kim, K J]]
[[Category: Kim K-J]]
[[Category: Kim, Y G]]
[[Category: Kim Y-G]]
[[Category: Disease mutation]]
[[Category: Mitochondria]]
[[Category: Mitochondrion]]
[[Category: Nad]]
[[Category: Oxidoreductase]]
[[Category: Polymorphism]]
[[Category: Ssa]]
[[Category: Ssadh]]
[[Category: Transit peptide]]