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{{STRUCTURE_2w2j|  PDB=2w2j  |  SCENE=  }}
===Crystal structure of the human carbonic anhydrase related protein VIII===


==Disease==
==Crystal structure of the human carbonic anhydrase related protein VIII==
[[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.  
<StructureSection load='2w2j' size='340' side='right'caption='[[2w2j]], [[Resolution|resolution]] 1.60&Aring;' scene=''>
 
== Structural highlights ==
==Function==
<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>
[[http://www.uniprot.org/uniprot/CAH8_HUMAN CAH8_HUMAN]] Does not have a carbonic anhydrase catalytic activity.  
</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>
 
<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>
==About this Structure==
<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>
[[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].  
</table>
 
== Disease ==
==Reference==
[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.
<ref group="xtra">PMID:019360879</ref><references group="xtra"/><references/>
== Function ==
[[Category: Carbonate dehydratase]]
[https://www.uniprot.org/uniprot/CAH8_HUMAN CAH8_HUMAN] Does not have a carbonic anhydrase catalytic activity.
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
  <jmolCheckbox>
    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/w2/2w2j_consurf.spt"</scriptWhenChecked>
    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
    <text>to colour the structure by Evolutionary Conservation</text>
  </jmolCheckbox>
</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].
<div style="clear:both"></div>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Arrowsmith, C.]]
[[Category: Large Structures]]
[[Category: Bountra, C.]]
[[Category: Arrowsmith C]]
[[Category: Delft, F Von.]]
[[Category: Bountra C]]
[[Category: Edwards, A.]]
[[Category: Edwards A]]
[[Category: Filippakopoulos, P.]]
[[Category: Filippakopoulos P]]
[[Category: King, O N.F.]]
[[Category: King ONF]]
[[Category: Kochan, G.]]
[[Category: Kochan G]]
[[Category: Kramm, A.]]
[[Category: Kramm A]]
[[Category: Muniz, J R.C.]]
[[Category: Muniz JRC]]
[[Category: Oppermann, U.]]
[[Category: Oppermann U]]
[[Category: Picaud, S S.]]
[[Category: Picaud SS]]
[[Category: Pike, A C.W.]]
[[Category: Pike ACW]]
[[Category: Pilka, E S.]]
[[Category: Pilka ES]]
[[Category: Wikstrom, M.]]
[[Category: Wikstrom M]]
[[Category: Yue, W W.]]
[[Category: Yue WW]]
[[Category: Lyase]]
[[Category: Von Delft F]]
[[Category: Metal-binding]]
Retrieved from "https://proteopedia.org/2w2j"