Centrosome-associated protein CEP250 (CEP250)

Centrosome-associated protein CEP250 (CEP250) is a large scaffold protein (approximately 250 kDa) located at the centrosome, where it is required for the cohesion of centrioles during the interphase of the cell cycle[1][5]. CEP250 forms proteinaceous linkers between centrioles, recruiting and interacting with proteins such as rootletin (CROCC) and LRRC45 to maintain centrosome cohesion and ensure proper cell division[3][5]. Its function is crucial for microtubule organizing center dynamics, and it disassociates at the onset of mitosis. CEP250 is phosphorylated by NIMA-related kinase 2 and its centriolar localization requires CEP135[1][5]. Besides its well-established role in cell cycle progression and centriole cohesion, CEP250 is implicated in ciliogenesis and is required for the late differentiation of spermatogonia, influencing male fertility[3]. Mutations in CEP250 are associated with syndromic diseases affecting hearing and vision (Usher syndrome), and studies in animal models indicate its dysfunction can lead to infertility and microcephaly-like phenotypes[3][5]. CEP250 is currently considered a prospective therapeutic target in the context of centrosome-related disorders but is not yet the focus of approved drugs or biomarker strategies[6].

Other names

CEP250C-Nap1C-NAP1CNAP1Cep250CEP2Centrosomal Nek2-associated protein 1250 kDa centrosomal proteinCentrosomal protein 2CRDHL2