|SwissProt ID Link
||Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidences are required to confirm these data.
||Cell projection, cilium membrane; Lipid-anchor. Associates to the cilium membrane via palmitoylation. Localizes to proximal ciliary membranes, to an inversin-like subciliary membrane compartment, excluding the transition zone.
|Involvement in Disease
||Joubert syndrome 8: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices
. Additional variable features include retinal dystrophy and renal disease. The disease is caused by mutations affecting the gene represented in this entry.
||Sumoylation is required for PKD2 entry into cilium.
||Monomer. Interacts with PIFO. Interacts with IFT complex B components IFT46 and IFT74.
||Belongs to the small GTPase superfamily. Arf family.