Centrosomal protein of 83 kDa (CEP83)

Centrosomal protein of 83 kDa (CEP83) is a centriolar protein that localizes to the distal appendages of mother centrioles, where it is essential for anchoring the centriole to the cell membrane and initiating the formation of primary cilia[1][2]. CEP83 recruits other distal appendage proteins during ciliogenesis and thus controls the assembly and function of primary cilia, which play critical roles in cellular signaling and development. Mutations in CEP83 cause defective ciliogenesis and disrupted mesodermal patterning, especially impairing the formation of intermediate mesoderm and kidney progenitor cells, and are associated clinically with infantile nephronophthisis—a severe pediatric kidney disease—and potentially other organ defects deriving from aberrant mesodermal differentiation[1][2]. While fundamental for development and disease modeling, there are currently no drugs known to directly target CEP83, and its main clinical relevance derives from its role as a genetic disease gene and a developmental biology marker.

Other names

Centrosomal protein 83CEP83CCDC41NY-REN-58NPHP18Coiled-coil domain-containing protein 41Renal carcinoma antigen NY-REN-58