CEP78

Also known as C9orf81, IP63, centrosomal protein 78, CRDHL

Centrosomal protein of 78 kDa, also known as Cep78, is a protein that in humans is encoded by the CEP78 gene.

Gene data

CEP78

Name: centrosomal protein 78
Type: protein-coding
Aliases: C9orf81, CRDHL, IP63

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].

via MyGene.info