Centrosomal protein 89 (CEP89)

Centrosomal protein 89 (CEP89) is a coiled-coil domain-containing protein predominantly localized to the centrosome and mitochondria. It is essential for the formation of non-motile cilia (ciliogenesis) and plays a critical role in mitochondrial metabolism by regulating cytochrome c oxidase (Complex IV) activity, which affects cellular energy production and mitochondrial integrity. Pathogenic mutations in CEP89 cause various multisystem disorders, including mitochondrial complex IV deficiency, which can manifest as myopathy, hepatomegaly, cardiomyopathy, developmental delay, and intellectual disability. CEP89 is overexpressed in ovarian cancer, where it acts as an independent prognostic marker for poor overall survival, suggesting a possible oncogenic role and making it a candidate for targeted therapeutic development. No drugs directly targeting CEP89 are currently known.

Other names

Centrosomal protein of 89 kDaCEP89CCDC123Cep89Cep123FLJ14640Centrosomal protein 123Coiled-coil domain-containing protein 123CEP123coiled-coil domain containing 123centrosomal protein 89kDamitochondrial CEP89