View source for 4gyx


==The von Willebrand Factor A3 domain binding region of type III collagen stabilized by the cysteine knot==
<StructureSection load='4gyx' size='340' side='right'caption='[[4gyx]], [[Resolution|resolution]] 1.49&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[4gyx]] is a 3 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=4GYX OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4GYX FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.49&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=HYP:4-HYDROXYPROLINE'>HYP</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=4gyx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4gyx OCA], [https://pdbe.org/4gyx PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4gyx RCSB], [https://www.ebi.ac.uk/pdbsum/4gyx PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4gyx ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/CO3A1_HUMAN CO3A1_HUMAN] Defects in COL3A1 are a cause of Ehlers-Danlos syndrome type 3 (EDS3) [MIM:[https://omim.org/entry/130020 130020]; also known as benign hypermobility syndrome. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS3 is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity.<ref>PMID:7833919</ref>   Defects in COL3A1 are the cause of Ehlers-Danlos syndrome type 4 (EDS4) [MIM:[https://omim.org/entry/130050 130050]. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS4 is the most severe form of the disease. It is characterized by the joint and dermal manifestations as in other forms of the syndrome, characteristic facial features (acrogeria) in most patients, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas.<ref>PMID:1370809</ref> <ref>PMID:8411057</ref> <ref>PMID:2492273</ref> <ref>PMID:7749417</ref> <ref>PMID:1352273</ref> <ref>PMID:2808425</ref> <ref>PMID:1895316</ref> <ref>PMID:1357232</ref> <ref>PMID:1496983</ref> <ref>PMID:8098182</ref> [:]<ref>PMID:7912131</ref> <ref>PMID:8019562</ref> [:]<ref>PMID:8680408</ref> <ref>PMID:8884076</ref> <ref>PMID:9147870</ref> <ref>PMID:8664902</ref> <ref>PMID:8990011</ref> <ref>PMID:9036918</ref> <ref>PMID:9452103</ref> <ref>PMID:10923041</ref> <ref>PMID:10706896</ref> <ref>PMID:11168790</ref> <ref>PMID:12694234</ref> <ref>PMID:12786757</ref>   Defects in COL3A1 are a cause of susceptibility to aortic aneurysm abdominal (AAA) [MIM:[https://omim.org/entry/100070 100070]. AAA is a common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells.<ref>PMID:8514866</ref> <ref>PMID:2243125</ref> <ref>PMID:2349939</ref> 
== Function ==
[https://www.uniprot.org/uniprot/CO3A1_HUMAN CO3A1_HUMAN] Collagen type III occurs in most soft connective tissues along with type I collagen.
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Bachinger HP]]
[[Category: Boudko SP]]