dishevelled segment polarity protein 3
The DVL3 gene provides instructions for making a protein that plays a critical role in development before birth. It is one of three DVL genes in humans (DVL1, DVL2, and DVL3). The proteins produced from these genes work together in chemical signaling pathways known as Wnt signaling. These pathways control the activity of certain genes and regulate the interactions between cells during embryonic development. Signaling involving the DVL proteins appears to be important for the normal development of the brain, skeleton, and many other parts of the body.
At least six mutations in the DVL3 gene have been found to cause the autosomal dominant form of Robinow syndrome, a condition that affects the development of many parts of the body, particularly the skeleton. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder.
All of the identified DVL3 gene mutations occur near one end of the gene and are predicted to shorten the DVL3 protein. Researchers are working to determine how these changes affect the protein's function. The changes may have a dominant-negative effect, which means that the altered protein produced from one copy of the DVL3 gene interferes with the function of the normal protein produced from the other copy of the gene. Alternately, the changes may have a gain-of-function effect, giving the altered protein a new, as-yet-undetermined function. Either way, the abnormal DVL3 protein likely impairs Wnt signaling. Problems with Wnt signaling pathways disrupt the development of many organs and tissues before birth, leading to Robinow syndrome.
- dishevelled 3 (homologous to Drosophila dsh)
- dishevelled, dsh homolog 3
- segment polarity protein dishevelled homolog DVL-3