CPLANE1, also known as JBTS17or C5ORF42, plays a crucial role in forming cilia and affecting their orientation. CPLANE1 proteins are found in the transition zone of cilia and help bring intraflagellar transport (IFT) proteins to the base of cilia. Without CPLANE1, IFT-A proteins can't properly gather at the basal body of cilia and organize. Fibroblasts from patients with mutated CPLANE1have fewer and shorter cilia and don't respond as well to a sonic hedgehog (SHH) agonist. Macrocephaly and facial widening are common when the SHH signalling pathway is disrupted.
CPLANE1