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Polycystin-1 (PC1), encoded by the PKD1 gene, is a large transmembrane glycoprotein primarily known for its role in autosomal dominant polycystic kidney disease (ADPKD). It functions as a mechanosensor on primary cilia, regulating intracellular calcium homeostasis via interaction with polycystin-2 (PC2). PC1 influences cell proliferation, differentiation, migration, and cell-cell/matrix interactions, and is essential for renal tubular development. Mutations in PKD1 lead to cystogenesis and ADPKD.
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