2ko0: Difference between revisions
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2ko0]] is a 3 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=2KO0 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KO0 FirstGlance]. <br> | <table><tr><td colspan='2'>[[2ko0]] is a 3 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=2KO0 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KO0 FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene>< | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr> | ||
<tr><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2jtg|2jtg]]</td></tr> | <tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2jtg|2jtg]]</td></tr> | ||
<tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">THAP1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">THAP1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | ||
<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=2ko0 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ko0 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2ko0 RCSB], [http://www.ebi.ac.uk/pdbsum/2ko0 PDBsum]</span></td></tr> | <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=2ko0 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ko0 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2ko0 RCSB], [http://www.ebi.ac.uk/pdbsum/2ko0 PDBsum]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/THAP1_HUMAN THAP1_HUMAN]] Defects in THAP1 are the cause of dystonia type 6 (DYT6) [MIM:[http://omim.org/entry/602629 602629]]. DYT6 is a primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.[:]<ref>PMID:19345147</ref> <ref>PMID:19908325</ref> <ref>PMID:19908320</ref> <ref>PMID:19182804</ref> <ref>PMID:20629133</ref> <ref>PMID:20669277</ref> <ref>PMID:20687191</ref> <ref>PMID:20083799</ref> <ref>PMID:20211909</ref> <ref>PMID:21847143</ref> <ref>PMID:20825472</ref> <ref>PMID:21800139</ref> <ref>PMID:21839475</ref> <ref>PMID:21425335</ref> <ref>PMID:21425341</ref> <ref>PMID:21110056</ref> <ref>PMID:22377579</ref> | [[http://www.uniprot.org/uniprot/THAP1_HUMAN THAP1_HUMAN]] Defects in THAP1 are the cause of dystonia type 6 (DYT6) [MIM:[http://omim.org/entry/602629 602629]]. DYT6 is a primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.[:]<ref>PMID:19345147</ref> <ref>PMID:19908325</ref> <ref>PMID:19908320</ref> <ref>PMID:19182804</ref> <ref>PMID:20629133</ref> <ref>PMID:20669277</ref> <ref>PMID:20687191</ref> <ref>PMID:20083799</ref> <ref>PMID:20211909</ref> <ref>PMID:21847143</ref> <ref>PMID:20825472</ref> <ref>PMID:21800139</ref> <ref>PMID:21839475</ref> <ref>PMID:21425335</ref> <ref>PMID:21425341</ref> <ref>PMID:21110056</ref> <ref>PMID:22377579</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Campagne, S | [[Category: Campagne, S]] | ||
[[Category: Gervais, V | [[Category: Gervais, V]] | ||
[[Category: Milon, A | [[Category: Milon, A]] | ||
[[Category: Saurel, O | [[Category: Saurel, O]] | ||
[[Category: Ccch]] | [[Category: Ccch]] | ||
[[Category: Dna binding domain]] | [[Category: Dna binding domain]] | ||
