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7q6j
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==Crystal structure of the human GDAP1 CMT2 mutant-H123R== | ==Crystal structure of the human GDAP1 CMT2 mutant-H123R== | ||
| - | <StructureSection load='7q6j' size='340' side='right'caption='[[7q6j]]' scene=''> | + | <StructureSection load='7q6j' size='340' side='right'caption='[[7q6j]], [[Resolution|resolution]] 2.20Å' 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=7Q6J OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7Q6J FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[7q6j]] 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=7Q6J OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7Q6J FirstGlance]. <br> |
| - | </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=7q6j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7q6j OCA], [https://pdbe.org/7q6j PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7q6j RCSB], [https://www.ebi.ac.uk/pdbsum/7q6j PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7q6j ProSAT]</span></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]] 2.2Å</td></tr> |
| + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=PEG:DI(HYDROXYETHYL)ETHER'>PEG</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=7q6j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7q6j OCA], [https://pdbe.org/7q6j PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7q6j RCSB], [https://www.ebi.ac.uk/pdbsum/7q6j PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7q6j ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/GDAP1_HUMAN GDAP1_HUMAN] Charcot-Marie-Tooth disease type 2H;Autosomal recessive intermediate Charcot-Marie-Tooth disease type A;Autosomal dominant Charcot-Marie-Tooth disease type 2K;Autosomal recessive Charcot-Marie-Tooth disease with hoarseness;Charcot-Marie-Tooth disease type 4A. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. | ||
| + | == Function == | ||
| + | [https://www.uniprot.org/uniprot/GDAP1_HUMAN GDAP1_HUMAN] Regulates the mitochondrial network by promoting mitochondrial fission.<ref>PMID:16172208</ref> | ||
| + | == References == | ||
| + | <references/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
| + | [[Category: Homo sapiens]] | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Kursula P]] | [[Category: Kursula P]] | ||
[[Category: Sutinen A]] | [[Category: Sutinen A]] | ||
Current revision
Crystal structure of the human GDAP1 CMT2 mutant-H123R
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