Centrosomal protein of 120 kDa (CEP120)

Centrosomal protein of 120 kDa (CEP120) is a coiled-coil domain-containing protein that localizes preferentially to the daughter centriole within the centrosome, where it plays an essential role in centriole biogenesis, elongation, and duplication[1][2][3]. CEP120 helps organize centriole structure by facilitating the assembly of centriolar microtubules and is crucial for the formation of distal and subdistal centriolar appendages that enable centrioles to become basal bodies and produce cilia[1][5]. Pathogenic mutations or loss of CEP120 disrupt proper centriole elongation and cilia formation, resulting in short centrioles lacking necessary appendages and leading to defective ciliogenesis and various human ciliopathies such as Joubert syndrome and Jeune asphyxiating thoracic dystrophy[3][5][6]. CEP120 interacts with several key partners, including CPAP, SPICE1, Talpid3, and C2CD3, to coordinate centriolar microtubule assembly and appendage formation[1][5]. It also helps maintain centrosome homeostasis by inhibiting untimely maturation of daughter centrioles, ensuring orderly cellular signaling and cytoskeletal organization[3]. No approved therapeutic drugs directly target CEP120, and it is not currently considered a therapeutic target in clinical practice.

Other names

Centrosomal protein 120CCDC100Cep120FLJ36090Coiled-coil domain-containing protein 100JBTS31SRTD13