The dvl3 gene encodes a cytoplasmic phosphoprotein that functions as a scaffold protein in the Wnt/β-catenin and planar cell polarity (PCP) signaling pathways. Its protein localizes to the cytoplasm an...[+]

The dvl3 gene encodes a cytoplasmic phosphoprotein that functions as a scaffold protein in the Wnt/β-catenin and planar cell polarity (PCP) signaling pathways. Its protein localizes to the cytoplasm and can form punctate structures associated with the cell membrane. It is involved in convergent extension movements during gastrulation, neural crest migration, somite segmentation, and establishment of left-right asymmetry. The protein transduces Wnt signals to downstream components, regulating gene expression and cytoskeletal organization. [-]

             autosomal dominant Robinow syndrome 3

          ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD