CEP83
Description
CEP83, also known as centrosomal protein 83, is a gene that plays a crucial role in the formation and function of cilia, hair-like structures found on the surface of many cells. Cilia are involved in a variety of cellular processes, including sensing the environment, movement of fluids, and cell signaling. Mutations in CEP83 can disrupt these processes, leading to a range of human diseases. CEP83 is involved in the assembly and stability of the basal body, the structure from which cilia emerge. It interacts with other proteins to regulate the formation of the ciliary axoneme, the core structure of the cilium.
Associated Diseases
- Sensenbrenner syndrome
- Joubert syndrome
- Meckel-Gruber syndrome
- Orofaciodigital syndrome type VI
- Nephronophthisis
Did you know?
CEP83 mutations are particularly common in individuals with Joubert syndrome, a rare genetic disorder characterized by brain malformations and developmental delays.
