COL18A1

COL18A1 encodes the alpha-1 chain of type XVIII collagen, a non-fibrillar basement membrane component found in vascular, epithelial, and neural tissues. Proteolytic cleavage of its C-terminal domain produces endostatin, a potent anti-angiogenic peptide that inhibits endothelial cell proliferation, migration, and tube formation by interfering with VEGF signaling and integrin-mediated cell adhesion.
Mutations in COL18A1 cause Knobloch syndrome, marked by retinal detachment, encephalocele, and myopia. Endostatin has been explored for cancer therapy; recombinant forms like Endostar are approved in some regions for non-small cell lung cancer, used in combination with chemotherapy to suppress tumor angiogenesis, though clinical responses vary by tumor type.