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MESDC2 is involved in ossification and protein folding, and is associated with type 20 osteogenesis imperfecta. MESDC2 is crucial for regulating embryonic polarity and mesoderm induction. It plays a crucial role in the formation of neuromuscular junction (NMJ) by promoting the expression of LRP4 on the cell surface. MESDC2 may regulate the phagocytosis of apoptotic retinal pigment epithelial (RPE) cells.