CEP104

CEP104 is a protein that in humans is encoded by the CEP104 gene. This protein is a member of the centrosome and plays a critical role in the process of ciliogenesis, which is the process by which cilia and flagella are formed. Cilia are small, hair-like structures that protrude from the surface of many cell types and are involved in movement and sensory functions. The presence and proper function of cilia are crucial for the health and development of an organism, implicating the importance of CEP104 in cellular and developmental biology.

Function

CEP104 is involved in the assembly and maintenance of cilia. It functions at the distal end of the centriole, where it is thought to participate in the docking of vesicles necessary for the delivery of proteins to the growing cilium. This protein interacts with other centrosomal proteins to regulate the length of cilia and ensure their structural integrity. By facilitating the transport of essential components to the site of ciliogenesis, CEP104 plays a vital role in the formation and function of cilia.

Clinical Significance

Mutations in the CEP104 gene have been associated with various ciliopathies, a group of disorders arising from defects in cilia structure or function. These conditions can affect multiple organ systems, leading to a wide range of symptoms, including kidney disease, retinal degeneration, and developmental disorders. Understanding the role of CEP104 in ciliogenesis provides insights into the molecular mechanisms underlying these diseases and may contribute to the development of targeted therapies.

Research

Ongoing research is focused on elucidating the precise mechanisms by which CEP104 contributes to ciliogenesis and cilia maintenance. Studies using model organisms, such as zebrafish and mice, have been instrumental in uncovering the functions of CEP104 and its interactions with other proteins involved in cilia formation. Additionally, research into the role of CEP104 in human diseases continues to uncover its potential as a therapeutic target for treating ciliopathies.