CEP164

CEP164 is a protein that in humans is encoded by the CEP164 gene. This protein is a crucial component of the centrosome, playing a significant role in the regulation of centrosome maturation and ciliogenesis. The presence and function of CEP164 are essential for the proper formation and maintenance of primary cilia, which are sensory and signaling organelles protruding from the surface of many eukaryotic cells. Primary cilia are involved in numerous signaling pathways and are critical for cellular and physiological functions. Mutations in the CEP164 gene have been associated with various ciliopathies, a group of disorders arising from defects in cilia structure or function.

Function

CEP164 is located at the distal ends of centrioles, where it is involved in the initiation of ciliogenesis. It acts as a molecular anchor, recruiting other proteins necessary for the assembly of the primary cilium. By facilitating the docking of vesicles carrying ciliary membrane proteins, CEP164 plays a pivotal role in the early stages of primary cilium assembly. Furthermore, CEP164 is implicated in the DNA damage response, highlighting its importance in maintaining genomic stability through its role at the centrosome and primary cilium.

Clinical Significance

Mutations in the CEP164 gene have been linked to a spectrum of human diseases, primarily ciliopathies. These include nephronophthisis, a form of cystic kidney disease, and certain forms of retinal degeneration. The disruption of CEP164 function affects the structure and function of cilia, leading to the impaired signaling that underlies these diseases. Understanding the molecular mechanisms of CEP164's action in ciliogenesis and its involvement in disease pathways is crucial for developing potential therapeutic strategies for ciliopathies.

Genetics

The CEP164 gene is located on human chromosome 11. It encodes a protein that is a key component of the centrosome, involved in the assembly and function of primary cilia. Research into the genetic variations and mutations within the CEP164 gene and their effects on protein function and cellular processes continues to be an active area of study, with implications for understanding and treating related diseases.

Research Directions

Ongoing research is focused on elucidating the detailed mechanisms by which CEP164 regulates ciliogenesis and responds to DNA damage. Studies are also exploring the broader role of CEP164 in cell cycle regulation, signaling pathways mediated by cilia, and the impact of its dysfunction in human diseases. The development of model organisms and cell-based systems to study CEP164 function and pathology is critical for advancing our understanding of its biological roles and therapeutic potential.