CEP350
Description
The CEP350 (centrosomal protein 350) is a protein-coding gene located on chromosome 1.
CEP350 is a protein encoded by the CEP350 gene in humans. It's a large protein with a CAP-Gly domain, commonly found in cytoskeleton-associated proteins, and primarily resides at the centrosome, a non-membraneous organelle responsible for microtubule organization in animal cells. CEP350 is essential for anchoring microtubules at the centrosome and enhances centriole stability during growth. Interestingly, it also plays a role in regulating a class of nuclear hormone receptors in the nucleus. Several variations of the CEP350 gene have been identified, but their full-length structure is yet to be fully understood.
CEP350 plays a critical role in the development and function of centrioles, the core of the centrosome. It stabilizes the initial structure of the centriole, known as the procentriolar seed, which is composed of SASS6 and CENPJ proteins. CEP350 is essential for anchoring microtubules to the centrosome and maintaining the integrity of the microtubule network. This protein also plays a role in regulating the activity of PPARA, a nuclear hormone receptor, by recruiting it to specific subcellular compartments. Furthermore, CEP350 is required for the formation of cilia, hair-like projections that extend from the cell surface.
CEP350 is also known as CAP350, GM133.
Associated Diseases
- lysosomal storage disease
- Griscelli syndrome type 3
- uncombable hair syndrome
- oculocutaneous albinism type 3
- hypotrichosis simplex
- ermine phenotype
- Tietz syndrome
- Waardenburg syndrome, IIa 2F
- Clouston syndrome
- Waardenburg syndrome type 2A
