DVL3
Function
Involved in the signal transduction pathway mediated by multiple Wnt genes.
Involvement in disease
Robinow syndrome, autosomal dominant 3
DRS3
A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital hypoplasia, renal anomalies, and costovertebral segmentation defects.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains.
Phosphorylated by CSNK1D.
Arginine methylation may function as a switch in regulation of function in Wnt signaling.
Sequence Similarities
Belongs to the DSH family.
Cellular localization
- Cytoplasm
Alternative names
KIAA0208, DVL3, Segment polarity protein dishevelled homolog DVL-3, Dishevelled-3, DSH homolog 3