8jh7
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=8jh7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8jh7 OCA], [https://pdbe.org/8jh7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8jh7 RCSB], [https://www.ebi.ac.uk/pdbsum/8jh7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8jh7 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=8jh7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8jh7 OCA], [https://pdbe.org/8jh7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8jh7 RCSB], [https://www.ebi.ac.uk/pdbsum/8jh7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8jh7 ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| - | == Disease == | ||
| - | [https://www.uniprot.org/uniprot/FZD6_HUMAN FZD6_HUMAN] Autosomal recessive nail dysplasia. The disease is caused by variants affecting the gene represented in this entry. Rare non-synonymous variants in FZD6 may contribute to neural tube defects, congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. | ||
| - | == Function == | ||
| - | [https://www.uniprot.org/uniprot/C562_ECOLX C562_ECOLX] Electron-transport protein of unknown function.[https://www.uniprot.org/uniprot/FZD6_HUMAN FZD6_HUMAN] Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Together with FZD3, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear (By similarity).[UniProtKB:Q61089] | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||
Current revision
FZD6 in inactive state
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