Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar-shaped epithelium. Required for the progression th...[+]

Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar-shaped epithelium. Required for the progression through mitosis through regulation of chromosome congression. During anaphase, may be required for chromosome segregation and spindle elongation. Probably plays a role in ciliogenesis and collective cell movements including convergent extension during gastrulation. In cilia, required for the integrity of the diffusion barrier at the base of the primary cilium that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Controls cell shape and not polarization of cells during convergent extension. [-]

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