CEP78
Description
The CEP78 (centrosomal protein 78) is a protein-coding gene located on chromosome 9.
CEP78, or Centrosomal protein of 78 kDa, is a protein encoded by the CEP78 gene in humans. Mutations in this gene are associated with cone-rod dystrophy and hearing loss.
CEP78 may be essential for efficient PLK4 localization within the centrosome and the overduplication of centrioles triggered by PLK4. Additionally, it might contribute to the process of cilium biogenesis.
CEP78 is also known as C9orf81, CRDHL, IP63.
