CPLANE1, also known as JBTS17or C5ORF42, is responsible for ciliogenesis and the planar polarity effector. CPLANE1 proteins are localized in the ciliary transition zone and aid in the recruitment of intraflagellar transport (IFT) proteins to the basal body of cilia. The IFT system links cargo to microtubule motors for bidirectional transport in the axonemes. In the absence of CPLANE, IFT-A proteins fail to localize to the basal bodies and assemble. Fibroblasts from CPLANE1-mutated patients show fewer and shorter cilia and a diminished response to a sonic hedgehog (SHH) agonist. Macrocephaly and facial widening are general signs of disturbed SHH signalling.
CPLANE1