2w2n: Difference between revisions
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2w2n]] is a 3 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=2W2N OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2W2N FirstGlance]. <br> | <table><tr><td colspan='2'>[[2w2n]] is a 3 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=2W2N OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2W2N FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>< | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene></td></tr> | ||
<tr><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1f5y|1f5y]], [[1hj7|1hj7]], [[1n7d|1n7d]], [[2fcw|2fcw]], [[1i0u|1i0u]], [[1d2j|1d2j]], [[1lrx|1lrx]], [[1hz8|1hz8]], [[1f8z|1f8z]], [[1xfe|1xfe]], [[1ajj|1ajj]], [[1ldl|1ldl]], [[1ldr|1ldr]], [[1ijq|1ijq]], [[2w2o|2w2o]], [[2w2m|2w2m]], [[2w2p|2w2p]], [[2w2q|2w2q]]</td></tr> | <tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1f5y|1f5y]], [[1hj7|1hj7]], [[1n7d|1n7d]], [[2fcw|2fcw]], [[1i0u|1i0u]], [[1d2j|1d2j]], [[1lrx|1lrx]], [[1hz8|1hz8]], [[1f8z|1f8z]], [[1xfe|1xfe]], [[1ajj|1ajj]], [[1ldl|1ldl]], [[1ldr|1ldr]], [[1ijq|1ijq]], [[2w2o|2w2o]], [[2w2m|2w2m]], [[2w2p|2w2p]], [[2w2q|2w2q]]</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=2w2n FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2w2n OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2w2n RCSB], [http://www.ebi.ac.uk/pdbsum/2w2n 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=2w2n FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2w2n OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2w2n RCSB], [http://www.ebi.ac.uk/pdbsum/2w2n PDBsum]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/LDLR_HUMAN LDLR_HUMAN]] Defects in LDLR are the cause of familial hypercholesterolemia (FH) [MIM:[http://omim.org/entry/143890 143890]]; a common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis).<ref>PMID:3263645</ref> <ref>PMID:2569482</ref> <ref>PMID:3955657</ref> <ref>PMID:8347689</ref> <ref>PMID:2318961</ref> <ref>PMID:1446662</ref> <ref>PMID:1867200</ref> <ref>PMID:8462973</ref> <ref>PMID:8168830</ref> <ref>PMID:2726768</ref> <ref>PMID:1464748</ref> <ref>PMID:7573037</ref> <ref>PMID:7583548</ref> <ref>PMID:7550239</ref> <ref>PMID:7635461</ref> <ref>PMID:7635482</ref> <ref>PMID:7649546</ref> <ref>PMID:7649549</ref> <ref>PMID:8740918</ref> <ref>PMID:8664907</ref> <ref>PMID:9026534</ref> <ref>PMID:9254862</ref> <ref>PMID:9143924</ref> <ref>PMID:9259195</ref> <ref>PMID:9104431</ref> <ref>PMID:9654205</ref> <ref>PMID:9452094</ref> <ref>PMID:9452095</ref> <ref>PMID:9452118</ref> <ref>PMID:10206683</ref> <ref>PMID:10660340</ref> [:]<ref>PMID:9852677</ref> <ref>PMID:9678702</ref> <ref>PMID:10422803</ref> <ref>PMID:10090484</ref> <ref>PMID:10447263</ref> <ref>PMID:10978268</ref> <ref>PMID:10980548</ref> <ref>PMID:10882754</ref> <ref>PMID:11298688</ref> <ref>PMID:17142622</ref> <ref>PMID:19319977</ref> <ref>PMID:22160468</ref> | [[http://www.uniprot.org/uniprot/LDLR_HUMAN LDLR_HUMAN]] Defects in LDLR are the cause of familial hypercholesterolemia (FH) [MIM:[http://omim.org/entry/143890 143890]]; a common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis).<ref>PMID:3263645</ref> <ref>PMID:2569482</ref> <ref>PMID:3955657</ref> <ref>PMID:8347689</ref> <ref>PMID:2318961</ref> <ref>PMID:1446662</ref> <ref>PMID:1867200</ref> <ref>PMID:8462973</ref> <ref>PMID:8168830</ref> <ref>PMID:2726768</ref> <ref>PMID:1464748</ref> <ref>PMID:7573037</ref> <ref>PMID:7583548</ref> <ref>PMID:7550239</ref> <ref>PMID:7635461</ref> <ref>PMID:7635482</ref> <ref>PMID:7649546</ref> <ref>PMID:7649549</ref> <ref>PMID:8740918</ref> <ref>PMID:8664907</ref> <ref>PMID:9026534</ref> <ref>PMID:9254862</ref> <ref>PMID:9143924</ref> <ref>PMID:9259195</ref> <ref>PMID:9104431</ref> <ref>PMID:9654205</ref> <ref>PMID:9452094</ref> <ref>PMID:9452095</ref> <ref>PMID:9452118</ref> <ref>PMID:10206683</ref> <ref>PMID:10660340</ref> [:]<ref>PMID:9852677</ref> <ref>PMID:9678702</ref> <ref>PMID:10422803</ref> <ref>PMID:10090484</ref> <ref>PMID:10447263</ref> <ref>PMID:10978268</ref> <ref>PMID:10980548</ref> <ref>PMID:10882754</ref> <ref>PMID:11298688</ref> <ref>PMID:17142622</ref> <ref>PMID:19319977</ref> <ref>PMID:22160468</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Baysarowich, J | [[Category: Baysarowich, J]] | ||
[[Category: Bottomley, M J | [[Category: Bottomley, M J]] | ||
[[Category: Calzetta, A | [[Category: Calzetta, A]] | ||
[[Category: Carfi, A | [[Category: Carfi, A]] | ||
[[Category: Cirillo, A | [[Category: Cirillo, A]] | ||
[[Category: Cubbon, R M | [[Category: Cubbon, R M]] | ||
[[Category: Cummings, R T | [[Category: Cummings, R T]] | ||
[[Category: Fisher, T S | [[Category: Fisher, T S]] | ||
[[Category: Francesco, R De | [[Category: Francesco, R De]] | ||
[[Category: Mattu, M | [[Category: Mattu, M]] | ||
[[Category: Noto, A | [[Category: Noto, A]] | ||
[[Category: Orsatti, L | [[Category: Orsatti, L]] | ||
[[Category: Ruggeri, L | [[Category: Ruggeri, L]] | ||
[[Category: Santoro, J C | [[Category: Santoro, J C]] | ||
[[Category: Sitlani, A | [[Category: Sitlani, A]] | ||
[[Category: Sparrow, C P | [[Category: Sparrow, C P]] | ||
[[Category: Surdo, P Lo | [[Category: Surdo, P Lo]] | ||
[[Category: Talamo, F | [[Category: Talamo, F]] | ||
[[Category: Cardiovascular disease]] | [[Category: Cardiovascular disease]] | ||
[[Category: Egf]] | [[Category: Egf]] | ||
