8j7p
From Proteopedia
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8j7p FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8j7p OCA], [https://pdbe.org/8j7p PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8j7p RCSB], [https://www.ebi.ac.uk/pdbsum/8j7p PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8j7p ProSAT]</span></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=8j7p FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8j7p OCA], [https://pdbe.org/8j7p PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8j7p RCSB], [https://www.ebi.ac.uk/pdbsum/8j7p PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8j7p ProSAT]</span></td></tr> | ||
</table> | </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__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
Current revision
The cryo-EM structure of PiB bound TMEM106B fibril.
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Categories: Homo sapiens | Large Structures | Li D | Liu C | Tao YQ | Yan F | Zhao QY
