2w2j

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{{STRUCTURE_2w2j| PDB=2w2j | SCENE= }}
 
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===Crystal structure of the human carbonic anhydrase related protein VIII===
 
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==Disease==
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==Crystal structure of the human carbonic anhydrase related protein VIII==
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[[http://www.uniprot.org/uniprot/CAH8_HUMAN CAH8_HUMAN]] Defects in CA8 are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:[http://omim.org/entry/613227 613227]]. CMARQ3 is a congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mild mental retardation.
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<StructureSection load='2w2j' size='340' side='right'caption='[[2w2j]], [[Resolution|resolution]] 1.60&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[2w2j]] 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=2W2J OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2W2J FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/CAH8_HUMAN CAH8_HUMAN]] Does not have a carbonic anhydrase catalytic activity.
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.6&#8491;</td></tr>
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=UNX:UNKNOWN+ATOM+OR+ION'>UNX</scene></td></tr>
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==About this Structure==
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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=2w2j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2w2j OCA], [https://pdbe.org/2w2j PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2w2j RCSB], [https://www.ebi.ac.uk/pdbsum/2w2j PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2w2j ProSAT]</span></td></tr>
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[[2w2j]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2W2J OCA].
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</table>
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== Disease ==
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==Reference==
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[https://www.uniprot.org/uniprot/CAH8_HUMAN CAH8_HUMAN] Defects in CA8 are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:[https://omim.org/entry/613227 613227]. CMARQ3 is a congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mild mental retardation.
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<ref group="xtra">PMID:019360879</ref><references group="xtra"/><references/>
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== Function ==
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[[Category: Carbonate dehydratase]]
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[https://www.uniprot.org/uniprot/CAH8_HUMAN CAH8_HUMAN] Does not have a carbonic anhydrase catalytic activity.
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/w2/2w2j_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=2w2j ConSurf].
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<div style="clear:both"></div>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Arrowsmith, C.]]
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[[Category: Large Structures]]
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[[Category: Bountra, C.]]
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[[Category: Arrowsmith C]]
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[[Category: Delft, F Von.]]
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[[Category: Bountra C]]
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[[Category: Edwards, A.]]
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[[Category: Edwards A]]
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[[Category: Filippakopoulos, P.]]
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[[Category: Filippakopoulos P]]
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[[Category: King, O N.F.]]
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[[Category: King ONF]]
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[[Category: Kochan, G.]]
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[[Category: Kochan G]]
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[[Category: Kramm, A.]]
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[[Category: Kramm A]]
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[[Category: Muniz, J R.C.]]
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[[Category: Muniz JRC]]
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[[Category: Oppermann, U.]]
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[[Category: Oppermann U]]
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[[Category: Picaud, S S.]]
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[[Category: Picaud SS]]
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[[Category: Pike, A C.W.]]
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[[Category: Pike ACW]]
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[[Category: Pilka, E S.]]
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[[Category: Pilka ES]]
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[[Category: Wikstrom, M.]]
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[[Category: Wikstrom M]]
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[[Category: Yue, W W.]]
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[[Category: Yue WW]]
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[[Category: Lyase]]
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[[Category: Von Delft F]]
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[[Category: Metal-binding]]
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Current revision

Crystal structure of the human carbonic anhydrase related protein VIII

PDB ID 2w2j

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