ITGAV encodes integrin alpha V, a cell adhesion molecule that functions as part of heterodimeric integrin complexes (αVβ3, αVβ5) mediating cell-extracellular matrix interactions and signaling 1. Mechanistically, ITGAV-containing integrins activate TGF-β1 signaling through latent TGF-β1 binding and activation 2, regulate immune cell communication via ligand-receptor partnerships 3, and promote epithelial-mesenchymal transition through POSTN-ITGAV/ITGB5 axis activation of PI3K/AKT/β-catenin pathways 4. Loss-of-function ITGAV variants cause a previously unreported human disease characterized by brain abnormalities, immune dysregulation, inflammatory bowel disease, and developmental defects through disrupted TGF-β and αVβ3-regulated immune signaling 1. ITGAV shows clinical significance as a Parkinson's disease biomarker, with decreased plasma levels consistently associated with disease risk (hazard ratio: 0.11-0.57) in large prospective cohorts 5. Additionally, ITGAV plays pathogenic roles in cancer progression and fibrotic diseases; elevated SPP1-ITGAV signaling promotes pancreatic and pituitary tumor invasion 46, while endothelial ITGAV dysregulation drives thoracic aortic dissection through focal adhesion disruption 7. These findings position ITGAV as a therapeutic target across multiple diseases.