Inturned planar cell polarity protein (INTU)

Inturned planar cell polarity protein (INTU) is a key multifunctional protein involved in both the assembly and function of primary cilia and the regulation of planar cell polarity during embryonic development[1][4]. It acts as a core component of the CPLANE complex, essential for organizing the apical actin cytoskeleton, recruitment of CPLANE proteins, and correct positioning of basal bodies, all of which underpin the formation of primary cilia and the transmission of associated signaling pathways[1][4]. INTU is specifically implicated in developmental processes such as the formation of digits, palate, and tongue. Loss-of-function or hypomorphic mutations in INTU are linked to developmental disorders and ciliopathies, especially orofaciodigital syndrome XVII and short-rib thoracic dysplasia with polydactyly[1][4][5]. INTU has no direct evidence as a therapeutic drug target, nor are there known pharmacological agents or drugs acting on it[1][4]. However, it has roles in modulating the degradation of STAT1 and maintaining cellular homeostasis during stress in certain adult tissues, such as kidneys[3].

Other names

Protein inturnedKIAA1284PDZD6PDZK6CPLANE4Inturned planar cell polarity effector homologPDZ domain-containing protein 6ciliogenesis and planar polarity effector complex subunit 4INTOFD17SRTD20