The protein encoded by this gene is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithelial tissues such as the kidney. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR). The gene discussed is LRP2; the disease is Donnai-Barrow syndrome.