Disease-gene associations mined from literature

Literature associating DVL1 and neural tube defect

DVL1 [ENSP00000368169]

Segment polarity protein dishevelled homolog DVL-1; Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ); Dishevelled segment polarity proteins

Synonyms:  DVL1,  DVL1p,  hDVL1,  A0A024R080,  B7Z1E8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM