CEP250

CEP250, also known as C-Nap1, is a protein that in humans is encoded by the CEP250 gene. This protein plays a crucial role in cell division and is a key component of the centrosome, a structure found in cells that is important for organizing microtubules during cell division. The centrosome acts as the main microtubule organizing center (MTOC) and plays a pivotal role in the spatial arrangement of microtubules within the cell.

Function

CEP250 is involved in the maintenance of centrosome cohesion and integrity, particularly during the G2 phase of the cell cycle, when cells prepare to divide. It is a coiled-coil protein that interacts with several other centrosomal proteins, including CEP110 and CEP135, to ensure the proper formation and stabilization of the centrosome. Additionally, CEP250 is essential for the anchoring of microtubules to the centrosome, which is critical for the formation of the mitotic spindle and the accurate segregation of chromosomes during mitosis and meiosis.

Clinical Significance

Mutations in the CEP250 gene have been associated with various genetic disorders and diseases. Although direct links to specific conditions are still under investigation, abnormalities in centrosome function can lead to chromosomal instability, which is a hallmark of many cancers. Furthermore, defects in centrosomal proteins like CEP250 can result in improper cell division, which may contribute to developmental disorders and other pathologies.

Structure

The CEP250 protein contains several domains critical for its function, including a coiled-coil domain that facilitates its interaction with other centrosomal proteins. Its structure is essential for its role in centrosome cohesion and microtubule anchoring.

Research

Ongoing research on CEP250 is focused on elucidating its precise role in centrosome function and its involvement in human diseases. Studies are aimed at understanding how mutations in the CEP250 gene affect protein function and how these alterations contribute to the development of disease. Additionally, CEP250 is being studied for its potential as a therapeutic target, particularly in cancers where centrosome amplification and chromosomal instability are involved.