Aliases for LRP5 Gene
External Ids for LRP5 Gene
Previous HGNC Symbols for LRP5 Gene
Previous GeneCards Identifiers for LRP5 Gene
This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
GeneCards Summary for LRP5 Gene
LRP5 (LDL Receptor Related Protein 5) is a Protein Coding gene. Diseases associated with LRP5 include Osteoporosis-Pseudoglioma Syndrome and Hyperostosis, Endosteal. Among its related pathways are phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex and Endometrial cancer. GO annotations related to this gene include Wnt-protein binding and Wnt-activated receptor activity. An important paralog of this gene is LRP6.
UniProtKB/Swiss-Prot for LRP5 Gene
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 (PubMed:27228167). 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).