LRP5

LRP5 is a protein that in humans is encoded by the LRP5 gene. It is 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 first identified as a member of the LDL receptor family in Xenopus.

Function

The LRP5 gene provides instructions for making a protein that is embedded in the outer membrane of cells, where it is involved in chemical signaling pathways that affect the development and maintenance of the body's tissues. The LRP5 protein is particularly important for bone and eye development.

Clinical significance

Mutations in the LRP5 gene are associated with several diseases, including osteoporosis-pseudoglioma syndrome, high bone mass trait, familial exudative vitreoretinopathy, and Norrie disease.

See also

• Low-density lipoprotein receptor
• Wnt signaling pathway
• Osteoporosis-pseudoglioma syndrome
• Familial exudative vitreoretinopathy
• Norrie disease

References

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External links

• LRP5 gene at NCBI
• LRP5 gene at Genetics Home Reference

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