DISEASES

Disease-gene associations mined from literature

Literature associating LRP5 and osteopathia striata with cranial sclerosis

LRP5 [ENSP00000294304]

Low density lipoprotein receptor-related protein 5; 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. Plays a role in norrin (NDP) signal transduction. 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. Appears be required for postnatal control of vascular regression in the eye (By similarity). Required for posterior patterning of the epiblast during gastrulation (By similarity); Low density lipoprotein receptors

Synonyms:  LRP5,  LRP5p,  hLRP5,  E9PHY1,  O75197 ...

Linkouts:  STRING  Pharos  UniProt  OMIM