View source for 8rnu


==CryoEM structure of recombinant human Bri2 BRICHOS oligomers==
<StructureSection load='8rnu' size='340' side='right'caption='[[8rnu]], [[Resolution|resolution]] 3.40&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[8rnu]] is a 12 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=8RNU OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8RNU 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]] 3.4&#8491;</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=8rnu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8rnu OCA], [https://pdbe.org/8rnu PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8rnu RCSB], [https://www.ebi.ac.uk/pdbsum/8rnu PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8rnu ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/ITM2B_HUMAN ITM2B_HUMAN] Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies;ADan amyloidosis;ABri amyloidosis. The disease is caused by variants affecting the gene represented in this entry. A single base substitution at the stop codon of ITM2B generates a 277-residue precursor that is cleaved at the normal furin processing site to generate the ABri amyloidogenic peptide (PubMed:10391242). ABri accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia. ABri peptide variant forms fibrils in vitro (PubMed:10526337).<ref>PMID:10391242</ref> <ref>PMID:10526337</ref>   The disease is caused by variants affecting the gene represented in this entry. A decamer duplication in the 3' region of ITM2B results in the production of the ADan amyloidogenic peptide (PubMed:10781099). ADan is generated by cleavage of the mutated precursor at the normal furin processing site. ADan accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia.<ref>PMID:10781099</ref>   The disease is caused by variants affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/ITM2B_HUMAN ITM2B_HUMAN] Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites.  Mature BRI2 (mBRI2) functions as a modulator of the amyloid-beta A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed amyloid-beta protein 40 and amyloid-beta protein 42.  Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers.
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Chen G]]
[[Category: Hebert H]]
[[Category: Johansson J]]