Segment polarity protein dishevelled homolog DVL-1 is a protein that in humans is encoded by the DVL1 gene. DVL-1 is a cytoplasmic protein that regulates the stability of ß-catenin in the Wnt signalling pathway. DVL-1, the human homolog of the Drosophila dishevelled gene (dsh), encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes including segmentation and neuroblast specification. DVL-1 is a candidate gene for neuroblastomatous trans-formation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL-1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development.
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Protein Aliases: dishevelled 1; dishevelled 1 (homologous to Drosophila dsh); dishevelled, dsh homolog 1; Dishevelled-1; DSH homolog 1; DVL; DVL1L1; RP5-890O3.5; Segment polarity protein dishevelled homolog DVL-1
Gene Aliases: DRS2; DVL; dvl-1; DVL1; DVL1L1; DVL1P1; mKIAA4029