Centrosomal protein 104 kDa (CEP104)

Centrosomal protein 104 kDa (CEP104) is a conserved protein that localizes to centrioles and ciliary tips, essential for the formation and structural maintenance of primary cilia. It plays a critical role in ciliogenesis, particularly in regulating axoneme elongation and ensuring Hedgehog signaling competence. Loss-of-function mutations in CEP104 are associated with human ciliopathies, most notably Joubert syndrome, leading to developmental defects and impaired neuronal and organ development due to defective cilia[1][2][3][4]. Key points: - CEP104 is not a classical therapeutic drug target such as a receptor, enzyme, or transporter, but a structural centrosomal/ciliary protein. - There are currently no known drugs or targeted therapeutics for CEP104, nor established mechanisms of pharmaceutical targeting. - The main disease association is with Joubert syndrome, a rare congenital neurodevelopmental disorder caused by ciliary dysfunction[1][2]. - Mutations result in severe defects in cilia formation and function, explaining its categorization among ciliopathy genes. If you require biomarker, drug, or safety data, there is currently no evidence for such use cases in the literature.

Other names

CEP104KIAA0562CFAP256GlyBPJBTS25ROC22centrosomal protein 104centrosomal protein of 104 kDaRP1-286D6.4MRT77thienylcyclohexylpiperidine binding protein