DISEASES

Disease-gene associations mined from literature

Literature associating FZD9 and Williams-Beuren syndrome

FZD9 [ENSP00000345785]

Frizzled-9; Receptor for WNT2 that is coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). Plays a role in neuromuscular junction (NMJ) assembly by negatively regulating the clustering of acetylcholine receptors (AChR) through the beta-catenin canonical signaling pathway (By similarity). May play a role in neural progenitor cells (NPCs) viability through the beta- catenin canonical signaling pathway by negatively regulating cell cycle arrest leading to inhibition of neuron apoptotic process . During hippocampal development, regulates neuroblast proliferation and apoptotic cell death. Controls bone formation through non canonical Wnt signaling mediated via ISG15. Positively regulates bone regeneration through non canonical Wnt signaling (By similarity).

Synonyms:  FZD9,  FZD9p,  hFZD9,  O00144,  O00144p ...

Linkouts:  STRING  Pharos  UniProt  OMIM