Centrosomal protein of 41 kDa (CEP41)

Centrosomal protein of 41 kDa (CEP41) is a centrosome- and cilia-associated protein that plays a critical role in regulating tubulin glutamylation, a key post-translational modification essential for proper ciliary structure and function. CEP41 is necessary for the transport of TTLL6, a polyglutamylase enzyme, into the cilium and thus is required for ciliary tubulin glutamylation, but not for the initial assembly of the cilium itself. Loss or depletion of CEP41 leads to structural and functional cilia defects, impaired mechanotransduction in endothelial cells, deficient angiogenesis (via defective response to mechanical cues and hypoxic signals), and prominent features of ciliopathies such as Joubert syndrome, characterized by neurodevelopmental, renal, and retinal abnormalities as well as vascular defects. There are no currently known drugs directly targeting CEP41, and it is not a canonical drug target such as a receptor or enzyme.

Other names

TSGA14JBTS15DKFZp762H1311FLJ22445Testis-specific gene A14 proteintestis specific protein A14testis specific, 14centrosomal protein 41 kDacentrosomal protein 41kDa