Disease-gene associations mined from literature

Literature associating WWC1 and Van Maldergem syndrome

WWC1 [ENSP00000427772]

WW domain-containing protein 1; Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with NF2 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. Acts as a transcriptional coactivator of ESR1 which plays an essential role in DYNLL1-mediated ESR1 transactivation. Regulates collagen-stimulated activation of the ERK/MAPK cascade. Modulates directional migration of podocytes. Acts as a substrate for PRKCZ. Plays a role in cognition and memory performance; Belongs to the WWC family. KIBRA subfamily.

Synonyms:  WWC1,  WWC1p,  hWWC1,  H0YAU4,  Q8IX03 ...

Linkouts:  STRING  Pharos  UniProt  OMIM