The Clusterin-Associated Protein 1 (CLUAP1) gene encodes a protein involved in cilia biogenesis and Hedgehog signaling. CLUAP1 is believed to carry out its key role in ciliogenesis by associating with the multiple intraflagellar transport complex B and playing a role in the assembly and turnaround of intraflagellar particles at the base and tip of the cilium.
Studies have found that abolishing CLUAP1 expression results in a lack of ciliogenesis in both mice and zebrafish. In mice, it results in mid-gestational lethality, while in zebrafish it results in photoreceptor defects and eventually death at around 11-days post fertilization. These results help support the theory that CLUAP1 mutations in humans can have strong pathological consequences, particularly in retinal diseases such as Leber Congenital Amaurosis (LCA). So far, only one case of a CLUAP1 mutation resulting in LCA has been reported.