4n6v
From Proteopedia
(Difference between revisions)
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| - | + | ==Partial rotational order disorder structure of human stefin B== | |
| - | + | <StructureSection load='4n6v' size='340' side='right' caption='[[4n6v]], [[Resolution|resolution]] 1.80Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | ==Disease== | + | <table><tr><td colspan='2'>[[4n6v]] is a 10 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4N6V OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4N6V FirstGlance]. <br> |
| + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></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 HUMAN])</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=4n6v FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4n6v OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4n6v RCSB], [http://www.ebi.ac.uk/pdbsum/4n6v PDBsum]</span></td></tr> | ||
| + | </table> | ||
| + | == 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> | ||
| - | + | == Function == | |
| - | ==Function== | + | |
[[http://www.uniprot.org/uniprot/CYTB_HUMAN CYTB_HUMAN]] This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B. | [[http://www.uniprot.org/uniprot/CYTB_HUMAN CYTB_HUMAN]] This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B. | ||
| - | + | == References == | |
| - | == | + | <references/> |
| - | + | __TOC__ | |
| - | + | </StructureSection> | |
| - | + | [[Category: Human]] | |
| - | <references | + | [[Category: Mihelic, M]] |
| - | [[Category: Mihelic, M | + | [[Category: Renko, M]] |
| - | [[Category: Renko, M | + | [[Category: Taler-Vercic, A]] |
| - | [[Category: Taler-Vercic, A | + | [[Category: Turk, D]] |
| - | [[Category: Turk, D | + | [[Category: Zerovnik, E]] |
| - | [[Category: Zerovnik, E | + | |
[[Category: Crystal disorder]] | [[Category: Crystal disorder]] | ||
[[Category: Cystatin b]] | [[Category: Cystatin b]] | ||
Revision as of 09:26, 5 January 2015
Partial rotational order disorder structure of human stefin B
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