TTC7A organizes glandular lumen formation in the intestine through a Class II phosphatidylinositol 3-kinase
Katlynn Bugda Gwilt, Dhanushan Wijayaratna, Geordie Emberling, Lily Gillette, Jeffrey La, Hengqi Betty Zheng, Danielle Wendel, Lina B. Karam, Aleixo M. Muise, Scott B. Snapper, Wayne I. Lencer, Krishnan Raghunathan, Jay R. Thiagarajah
This study identifies TTC7A's role in intestinal lumen formation by chaperoning PIK3C2A to generate PI(3,4)P2, with loss-of-function variants causing multiple lumens and rescue possible via exogenous PI(3,4)P2.
bioRxiv · Mar 22, 2025 · PreprintCell Biology