DISEASES

Disease-gene associations mined from literature

Literature associating LRP6 and cone-rod dystrophy 2

LRP6 [ENSP00000261349]

Low density lipoprotein receptor-related protein 6; Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor- ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3- mediated phosphorylation and destruction of beta-catenin. Required for posterior patterning of the epiblast during gastrulation (By similarity); Low density lipoprotein receptors

Synonyms:  LRP6,  LRP6p,  hLRP6,  B3KQA9,  F5H0Z3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM