Plays a role in the definition of cell polarity via the planar cell polarity (PCP) cascade. Required for ciliogenesis by controlling the organization of the apical actin cytoskeleton and the positionin...[+]

Plays a role in the definition of cell polarity via the planar cell polarity (PCP) cascade. Required for ciliogenesis by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essential for the normal orientation of elongating ciliary microtubules. Proposed to function as core component of a functional module called CPLANE (ciliogenesis and planar polarity effectors) involved in recruitment of peripheral IFT-A proteins to basal bodies (PubMed:27158779). Controls the localization of both rhoa and disheveled in multi-ciliated cells. Has an indirect effect on hedgehog signaling. [-]

          SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD