CEP135

CEP135, also known as centrosomal protein 135, is a conserved centrosomal protein encoded by the CEP135 gene in humans. It is a large coiled-coil protein that localizes predominantly to centrioles and the surrounding pericentriolar material.

In cells, CEP135 is required for centriole biogenesis and proper centrosome function. It participates in centriole duplication by helping recruit and stabilize proteins at the early procentriole, supporting centriole elongation and the formation of a functional mitotic spindle. Loss or reduction of CEP135 disrupts centriole numbers, impairs microtubule organization, and leads to mitotic defects and abnormal cell divisions.

CEP135 activity is regulated during the cell cycle, with localization and interactions changing as cells progress through mitosis. It interacts with other centrosomal components involved in centriole assembly and PCM recruitment, contributing to the precise control of centrosome duplication.

Mutations in CEP135 are associated with primary microcephaly and related neurodevelopmental disorders. Affected individuals typically have reduced brain size and may show developmental delay and growth abnormalities. The condition is generally inherited in an autosomal recessive manner, reflecting the loss-of-function impact of pathogenic variants in CEP135.

CEP135 is evolutionarily conserved across vertebrates and is studied in cultured human cells and model organisms, including mice and zebrafish, to understand how centrosome function influences neural progenitor proliferation and brain development.