CEP120

CEP120 (Centrosomal protein of 120 kDa) is a protein that in humans is encoded by the CEP120 gene. This protein plays a crucial role in cell division, centrosome duplication, and ciliogenesis, making it a significant focus of study in cell biology and certain diseases.

Function

CEP120 is involved in the regulation of centriole length and in the process of centriole duplication during the cell cycle. It is a component of the centrosome, a structure found in eukaryotic cells that serves as the main microtubule organizing center and plays a vital role in the spatial arrangement of microtubules and mitotic spindle formation. CEP120 is also implicated in the formation and maintenance of cilia, hair-like projections on the cell surface that are involved in cell movement and signaling. The proper function of CEP120 is essential for normal cell division and for the development and maintenance of cilia, which are critical for the signaling pathways that control cell growth and differentiation.

Clinical Significance

Mutations in the CEP120 gene have been associated with various human diseases, including certain forms of dwarfism, Joubert syndrome, and other ciliopathies. Ciliopathies are a group of disorders arising from defects in cilia structure or function. Given the role of CEP120 in ciliogenesis, disruptions in its function can lead to a wide range of clinical manifestations, including developmental delays, renal and retinal problems, and neurological issues.

Structure

The CEP120 protein is characterized by its size of approximately 120 kDa and contains several coiled-coil domains, which are typical for proteins involved in the assembly of cellular structures, including the centrosome and cilia. The precise structure of CEP120 and how it interacts with other centrosomal and ciliary proteins to fulfill its functions in the cell remains an area of active research.

Research

Research on CEP120 continues to uncover its roles in cell biology and disease. Studies using model organisms, such as zebrafish and mice, have been instrumental in elucidating the function of CEP120 in centrosome duplication and ciliogenesis. Additionally, research into the molecular mechanisms of CEP120-related diseases may provide insights into potential therapeutic targets for treating ciliopathies and other conditions associated with this protein.