SASS6
Description
The SASS6 (SAS-6 centriolar assembly protein) is a protein-coding gene located on chromosome 1.
SASS6 gene encodes for a protein, Spindle assembly abnormal protein 6 homolog (SAS-6), which is crucial for centrosome duplication. SAS-6 plays a critical role in the formation of procentrioles, ensuring that each centriole gives rise to a single procentriole during the cell cycle. Mutations in SASS6 have been linked to Microcephalic primordial dwarfism (MCPH).
The protein encoded by SASS6 plays a crucial role in the structural integrity and duplication of centrioles, ensuring their characteristic nine-fold symmetry. This protein is essential for the formation and duplication of centrosomes, being involved in both mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells. Notably, overexpression of SASS6 leads to an excess of centriolar markers. Moreover, it is critical for the recruitment of STIL to the procentriole and facilitates STIL-mediated centriole amplification. These processes are vital for the accurate and efficient replication of these vital cellular components.
SASS6 is also known as MCPH14, SAS-6, SAS6.
