CEP120 is a centrosomal protein essential for centriole biogenesis and ciliogenesis. Structurally, CEP120 contains three C2 domains, with the N-terminal C2A domain uniquely binding tubulin and promoting microtubule formation through a positively charged residue patch 1. During centriole maturation, CEP120 recruits CEP295 to nascent centrioles in a PLK4-dependent manner and interacts with C2CD3 and Talpid3 to assemble centriole appendages required for cilia formation 2. CEP120 also recruits KIAA0753 to centrioles, regulating neuronal differentiation during cerebellar development 3. CEP120 mutations cause severe ciliopathies including Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Disease-associated mutations (V194A, A199P, I975S) reduce protein thermostability or impair binding partner recruitment, compromising centriole elongation and appendage assembly 42. Expression analysis reveals CEP120 localization in developing brain, retina, and kidney, correlating with affected tissues in ciliopathy patients 5. Additionally, CEP120 variants are associated with oocyte meiotic dysfunction and infertility 6. CEP120 maintains centriole structural integrity by stabilizing inner scaffold proteins through interaction with HYLS1, ensuring proper ciliogenesis across tissues 7.