View source for 9cwm


==Cryo-EM structure of human Low-density lipoprotein receptor-related protein 2==
<StructureSection load='9cwm' size='340' side='right'caption='[[9cwm]], [[Resolution|resolution]] 3.30&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9cwm]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=9CWM OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9CWM FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 3.3&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=9cwm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9cwm OCA], [https://pdbe.org/9cwm PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9cwm RCSB], [https://www.ebi.ac.uk/pdbsum/9cwm PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9cwm ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/LRP2_HUMAN LRP2_HUMAN] Donnai-Barrow syndrome. Donnai-Barrow syndrome (DBS) [MIM:[https://omim.org/entry/222448 222448]: Rare autosomal recessive disorder characterized by major malformations including agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. The FOAR syndrome was first described as comprising facial anomalies, ocular anomalies, sensorineural hearing loss, and proteinuria. DBS and FOAR were first described as distinct disorders but the classic distinguishing features between the 2 disorders were presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies in FOAR. Early reports noted that the 2 disorders shared many phenotypic features and may be identical. Although there is variability in the expression of some features (e.g., agenesis of the corpus callosum and proteinuria), DBS and FOAR are now considered to represent the same entity. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:17632512</ref> 
== Function ==
[https://www.uniprot.org/uniprot/LRP2_HUMAN LRP2_HUMAN] Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein release.
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Lyu M]]
[[Category: Zhang Z]]