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==Solution structure of W60G mutant of human beta2-microglobulin== | ==Solution structure of W60G mutant of human beta2-microglobulin== | ||
<StructureSection load='2vb5' size='340' side='right'caption='[[2vb5 | <StructureSection load='2vb5' size='340' side='right'caption='[[2vb5]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2vb5]] is a 1 chain structure with sequence from [ | <table><tr><td colspan='2'>[[2vb5]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2VB5 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2VB5 FirstGlance]. <br> | ||
</td></tr> | </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=2vb5 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2vb5 OCA], [https://pdbe.org/2vb5 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2vb5 RCSB], [https://www.ebi.ac.uk/pdbsum/2vb5 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2vb5 ProSAT]</span></td></tr> | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | |||
</table> | </table> | ||
== Disease == | |||
[https://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN] Defects in B2M are the cause of hypercatabolic hypoproteinemia (HYCATHYP) [MIM:[https://omim.org/entry/241600 241600]. Affected individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation.<ref>PMID:16549777</ref> Note=Beta-2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states. The capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum levels lead to amyloidosis in patients on long-term hemodialysis.<ref>PMID:3532124</ref> <ref>PMID:1336137</ref> <ref>PMID:7554280</ref> <ref>PMID:4586824</ref> <ref>PMID:8084451</ref> <ref>PMID:12119416</ref> <ref>PMID:12796775</ref> <ref>PMID:16901902</ref> <ref>PMID:16491088</ref> <ref>PMID:17646174</ref> <ref>PMID:18835253</ref> <ref>PMID:18395224</ref> <ref>PMID:19284997</ref> | |||
== Function == | |||
[https://www.uniprot.org/uniprot/B2MG_HUMAN B2MG_HUMAN] Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. | |||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Bellotti | [[Category: Bellotti V]] | ||
[[Category: Bolognesi | [[Category: Bolognesi B]] | ||
[[Category: Corazza | [[Category: Corazza A]] | ||
[[Category: Esposito | [[Category: Esposito G]] | ||
[[Category: Fogolari | [[Category: Fogolari F]] | ||
[[Category: Giorgetti | [[Category: Giorgetti S]] | ||
[[Category: Gumral | [[Category: Gumral D]] | ||
[[Category: Merlini | [[Category: Merlini G]] | ||
[[Category: Mimmi | [[Category: Mimmi MC]] | ||
[[Category: Raimondi | [[Category: Raimondi S]] | ||
[[Category: Rennella | [[Category: Rennella E]] | ||
[[Category: Stoppini | [[Category: Stoppini M]] | ||
[[Category: Viglino | [[Category: Viglino P]] | ||