Ciliogenesis and planar polarity effector complex subunit 1 (CPLANE1)

Ciliogenesis and planar polarity effector complex subunit 1 (CPLANE1) is a protein involved in the formation of cilia and the establishment of planar cell polarity, both essential for proper cell function and migration in multicellular organisms[1][3][4][6]. The protein is encoded by the CPLANE1 gene, located on chromosome 5, and likely operates as part of the CPLANE protein complex, interacting with other effectors to regulate ciliogenesis and cell polarity[3][6]. Deficits or mutations in CPLANE1 are causative for severe congenital disorders termed ciliopathies, notably Joubert syndrome and orofaciodigital syndrome VI, which affect development of the brain, kidneys, and other organs[1][3]. These phenotypes stem from failure of proper cilia formation and function, disrupting critical intracellular signaling and tissue morphogenesis[1][2][3]. The protein contains putative coiled-coil domains and may have transmembrane regions, supporting its structural role at the base of cilia and in recruiting intraflagellar transport components necessary for ciliary assembly and maintenance[3][6]. There are currently no known drugs that directly interact with CPLANE1, nor are there mechanism-based therapies specifically targeting its function; treatments for patients with CPLANE1 mutations are largely symptomatic[2].

Other names

C5orf42JBTS17HugOFD6Heart Under Glassprotein JBTS17transmembrane protein ENSP00000382582FLJ13231