Structural highlights
Disease
FUZZY_HUMAN Caudal regression syndrome;Non-syndromic non-specific multisutural craniosynostosis.
Function
FUZZY_HUMAN Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia. Binds phosphatidylinositol 3-phosphate with highest affinity, followed by phosphatidylinositol 4-phosphate and phosphatidylinositol 5-phosphate (By similarity).[UniProtKB:Q3UYI6]
