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2edp

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== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2edp]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EDP OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EDP FirstGlance]. <br>
<table><tr><td colspan='2'>[[2edp]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EDP OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EDP FirstGlance]. <br>
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</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIAA1202 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIAA1202 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2edp FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2edp OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2edp RCSB], [http://www.ebi.ac.uk/pdbsum/2edp PDBsum], [http://www.topsan.org/Proteins/RSGI/2edp TOPSAN]</span></td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2edp FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2edp OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2edp RCSB], [http://www.ebi.ac.uk/pdbsum/2edp PDBsum], [http://www.topsan.org/Proteins/RSGI/2edp TOPSAN]</span></td></tr>
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<table>
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</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/SHRM4_HUMAN SHRM4_HUMAN]] Defects in SHROOM4 are the cause of mental retardation syndromic X-linked Stocco dos Santos type (SDSX) [MIM:[http://omim.org/entry/300434 300434]]. A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis.<ref>PMID:16249884</ref> Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with FBXO25. Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;19).
[[http://www.uniprot.org/uniprot/SHRM4_HUMAN SHRM4_HUMAN]] Defects in SHROOM4 are the cause of mental retardation syndromic X-linked Stocco dos Santos type (SDSX) [MIM:[http://omim.org/entry/300434 300434]]. A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis.<ref>PMID:16249884</ref> Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with FBXO25. Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;19).
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</StructureSection>
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Endo, H.]]
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[[Category: Endo, H]]
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[[Category: Hayashi, F.]]
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[[Category: Hayashi, F]]
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[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
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[[Category: Structural genomic]]
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[[Category: Yokoyama, S.]]
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[[Category: Yokoyama, S]]
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[[Category: Yoshida, M.]]
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[[Category: Yoshida, M]]
[[Category: Apx/shroom family member]]
[[Category: Apx/shroom family member]]
[[Category: Kiaa1202 protein]]
[[Category: Kiaa1202 protein]]
[[Category: National project on protein structural and functional analyse]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nppsfa]]
[[Category: Nppsfa]]
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[[Category: Riken structural genomics/proteomics initiative]]
 
[[Category: Rsgi]]
[[Category: Rsgi]]
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[[Category: Structural genomic]]
 
[[Category: Structural protein]]
[[Category: Structural protein]]

Revision as of 17:35, 15 January 2015

Solution structure of the PDZ domain from human Shroom family member 4

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