A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
Although ciliopathies are usually considered to involve proteins that localize to the primary cilia or centrosomes, it is possible for ciliopathies to be associated with proteins such as XPNPEP3, which localizes to mitochondria but is believed to affect ciliary function through proteolytic cleavage of ciliary proteins.
Significant advances in understanding the importance of cilia were made beginning in the mid-1990s. However, "the physiological role that this organelle plays in most tissues remains elusive." Additional studies of "how ciliary dysfunction can lead to such severe disease and developmental pathologies" is a subject of current research.
Read more about Ciliopathy: History, The Mechanism of Ciliary Function, Similar Genes Can Result in A Range of Different Diseases, Ciliopathies, Clinical Symptoms and Ciliary Roles