2oct: Difference between revisions
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2oct]] is a 2 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=2OCT OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2OCT FirstGlance]. <br> | <table><tr><td colspan='2'>[[2oct]] is a 2 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=2OCT OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2OCT FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CSTB ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CSTB ([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=2oct FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2oct OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2oct RCSB], [http://www.ebi.ac.uk/pdbsum/2oct 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=2oct FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2oct OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2oct RCSB], [http://www.ebi.ac.uk/pdbsum/2oct PDBsum]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/CYTB_HUMAN CYTB_HUMAN]] Defects in CSTB are the cause of progressive myoclonic epilepsy type 1 (EPM1) [MIM:[http://omim.org/entry/254800 254800]]. EPM1 is an autosomal recessive disorder characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop.<ref>PMID:9012407</ref> | [[http://www.uniprot.org/uniprot/CYTB_HUMAN CYTB_HUMAN]] Defects in CSTB are the cause of progressive myoclonic epilepsy type 1 (EPM1) [MIM:[http://omim.org/entry/254800 254800]]. EPM1 is an autosomal recessive disorder characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop.<ref>PMID:9012407</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Guncar, G | [[Category: Guncar, G]] | ||
[[Category: Kokalj, S Jenko | [[Category: Kokalj, S Jenko]] | ||
[[Category: Turk, D | [[Category: Turk, D]] | ||
[[Category: Amyloid]] | [[Category: Amyloid]] | ||
[[Category: Cystatin]] | [[Category: Cystatin]] | ||
