DVL1, 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. DVL1
='font-weight:700;'>DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]
1
1335278
1349418
Human
449
symbol , COSMIC , description , Human Proteome Map , old_gene_symbol
dishevelled segment polarity protein 1 pseudogene 1
Predicted to enable frizzled binding activity. Predicted to be involved in canonical Wnt signaling pathway. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Implicated in DiGeorge syndrome. [provided by Alliance of Genome Resources, Jul 2025]
22
19253131
19253469
Human
14
symbol , GTEx , COSMIC , Human Proteome Map , old_gene_symbol
In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003]