Centrosomal protein of 78 kDa (CEP78)

Centrosomal protein of 78 kDa (CEP78) is a scaffold protein localized to the centrosome, required for regulation of centrosome-related events during the cell cycle and for the formation and control of primary cilia length (ciliogenesis)[1][3]. It possesses an N-terminal leucine-rich repeat (LRR) domain and a C-terminal coiled-coil domain[1][3]. CEP78 interacts with components of the EDD1-DYRK2-DDB1-VprBP E3 ubiquitin ligase complex, modulating ubiquitination and degradation of CP110, a key negative regulator of ciliogenesis, thereby influencing cilia biogenesis and centrosome homeostasis[1][2]. Loss-of-function mutations in CEP78 cause cone-rod dystrophy often associated with hearing loss (CRDHL) and other ciliopathy phenotypes, by impairing ciliation frequency and/or causing abnormal cilia length[1]. There are no known drugs that specifically interact with CEP78, and it is not considered a current therapeutic target[3].

Other names

C9orf81CRDHLIP63FLJ12643centrosomal protein 78 kDaCep78centrosomal protein 78kDa