8otd
From Proteopedia
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| - | '''Unreleased structure''' | ||
| - | The entry  | + | ==TMEM106B Fold1-s filament from Guam ALS/PDC== | 
| - | + | <StructureSection load='8otd' size='340' side='right'caption='[[8otd]], [[Resolution|resolution]] 2.60Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[8otd]] is a 4 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=8OTD OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8OTD 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]] 2.6Å</td></tr> | |
| - | [[Category:  | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8otd FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8otd OCA], [https://pdbe.org/8otd PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8otd RCSB], [https://www.ebi.ac.uk/pdbsum/8otd PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8otd ProSAT]</span></td></tr> | 
| + | </table> | ||
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/T106B_HUMAN T106B_HUMAN] Progressive non-fluent aphasia;Semantic dementia;Behavioral variant of frontotemporal dementia. The gene represented in this entry acts as a disease modifier. Risk alleles confer genetic susceptibility by increasing gene expression (PubMed:20154673, PubMed:21178100). Increased expression may be the result of down-regulation of microRNA miR-132 and miR-212, that repress TMEM106B expression (PubMed:22895706). Thr-185 is a risk allele associated with lower GRN protein levels and early age at onset in GRN UP-FTD mutation carriers: it presents slower protein degradation that leads to higher steady-state TMEM106B levels, leading to alterations in the intracellular versus extracellular partitioning of GRN (PubMed:23742080).<ref>PMID:20154673</ref> <ref>PMID:21178100</ref> <ref>PMID:22895706</ref> <ref>PMID:23742080</ref>   The gene represented in this entry acts as a disease modifier.  The disease may be caused by variants affecting the gene represented in this entry. | ||
| + | == Function == | ||
| + | [https://www.uniprot.org/uniprot/T106B_HUMAN T106B_HUMAN] Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching.<ref>PMID:23136129</ref> <ref>PMID:24357581</ref>  | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Homo sapiens]] | ||
| + | [[Category: Large Structures]] | ||
| + | [[Category: Goedert M]] | ||
| + | [[Category: Qi C]] | ||
| + | [[Category: Scheres SHW]] | ||
| + | [[Category: Yang S]] | ||
Revision as of 10:10, 27 March 2024
TMEM106B Fold1-s filament from Guam ALS/PDC
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Categories: Homo sapiens | Large Structures | Goedert M | Qi C | Scheres SHW | Yang S
