Aliases for CEP78 Gene
External Ids for CEP78 Gene
Previous HGNC Symbols for CEP78 Gene
Previous GeneCards Identifiers for CEP78 Gene
This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017]
GeneCards Summary for CEP78 Gene
CEP78 (Centrosomal Protein 78) is a Protein Coding gene. Diseases associated with CEP78 include Cone-Rod Dystrophy And Hearing Loss and Usher Syndrome, Type Iiia. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.
UniProtKB/Swiss-Prot for CEP78 Gene
May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles (PubMed:27246242). May play a role in cilium biogenesis (PubMed:27588451).