CEP350

CEP350 is a protein that in humans is encoded by the CEP350 gene. This protein plays a crucial role in cell biology, particularly in the structure and function of the centrosome. The centrosome is a key cellular organelle that serves as the main microtubule organizing center, playing a vital role in cell division, cell cycle regulation, and the organization of the microtubules in the cytoskeleton. CEP350 is also known as centrosome-associated protein 350, reflecting its molecular weight of approximately 350 kDa and its localization to the centrosome.

Function

CEP350 is involved in the maintenance of centrosome integrity and the proper formation of the cilia and flagella, which are essential for cell motility and signaling. It acts as a scaffold protein, anchoring various components of the centrosome and ensuring the correct positioning and orientation of microtubules. Additionally, CEP350 plays a role in the regulation of cell cycle progression, particularly during the G1/S transition, by influencing the centrosome duplication cycle.

Gene and Expression

The CEP350 gene is located on human chromosome 18, and its expression is regulated throughout the cell cycle. The gene undergoes alternative splicing, resulting in multiple transcript variants encoding different isoforms of the CEP350 protein. These isoforms may have distinct functions or localization patterns within the cell, contributing to the versatility and adaptability of centrosome function.

Clinical Significance

Alterations in the expression or function of CEP350 have been implicated in various human diseases, including certain forms of cancer and ciliopathies. Ciliopathies are a group of disorders arising from defects in cilia formation or function, leading to a wide range of clinical manifestations, including kidney disease, retinal degeneration, and neurological disorders. The role of CEP350 in centrosome and cilia function makes it a potential target for therapeutic intervention in these diseases.

Research

Ongoing research is focused on elucidating the detailed mechanisms by which CEP350 contributes to centrosome and cilia function, as well as understanding how disruptions in CEP350 activity can lead to disease. Studies are also exploring the potential of targeting CEP350 or its pathways for the development of novel therapeutic strategies for diseases associated with centrosome dysfunction or ciliopathies.