2w2n: Difference between revisions
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{{STRUCTURE_2w2n| PDB=2w2n | SCENE= }} | {{STRUCTURE_2w2n| PDB=2w2n | SCENE= }} | ||
===WT PCSK9-DELTAC BOUND TO EGF-A H306Y MUTANT OF LDLR=== | ===WT PCSK9-DELTAC BOUND TO EGF-A H306Y MUTANT OF LDLR=== | ||
{{ABSTRACT_PUBMED_19001363}} | |||
==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> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/LDLR_HUMAN LDLR_HUMAN]] Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. In case of HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells. | |||
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==About this Structure== | ==About this Structure== | ||
[[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]. | |||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID: | <ref group="xtra">PMID:019001363</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Baysarowich, J.]] | [[Category: Baysarowich, J.]] | ||
| Line 47: | Line 37: | ||
[[Category: Familial hypercholesterolemia]] | [[Category: Familial hypercholesterolemia]] | ||
[[Category: Hydrolase]] | [[Category: Hydrolase]] | ||
[[Category: Hydrolase | [[Category: Hydrolase-receptor complex]] | ||
[[Category: Ldlr]] | [[Category: Ldlr]] | ||
[[Category: Lipid metabolism]] | [[Category: Lipid metabolism]] | ||
| Line 57: | Line 47: | ||
[[Category: Serine protease]] | [[Category: Serine protease]] | ||
[[Category: Steroid metabolism]] | [[Category: Steroid metabolism]] | ||