SASS6, encoding the Homo sapiens SAS-6 centriolar assembly protein, is crucial for proper centrosome formation, especially in centriole duplication [2,4,5,8]. It is involved in pathways related to cell cycle regulation and has overall biological importance in cell signaling, motility, and division [8]. Genetic models are valuable for studying its functions.

SASS6 has been studied in various disease contexts. In lung adenocarcinoma (LUAD), its high expression is associated with poor prognosis, is related to the cell cycle, and affects immune infiltration, TMB, immune checkpoints, and sensitivity to targeted drugs [1]. In esophageal squamous carcinoma cells, it promotes proliferation by inhibiting the p53 signaling pathway [2]. In colorectal cancer, its overexpression is linked to mitotic chromosomal abnormalities and a poor prognosis [4]. In triple-negative breast cancer cells, knockdown of SASS6 arrests the cell cycle at the G2/M phase and reduces cell growth [5]. In hepatocellular carcinoma, SASS6 is identified as a key gene associated with tumor prognosis, proliferation, and migration [9]. In primary autosomal recessive microcephaly, mutations in SASS6 have been found, supporting its role in the pathogenesis of this condition [3,6,7].

In conclusion, SASS6 is essential for centrosome formation and centriole duplication, with a significant impact on the cell cycle. Studies using gene-related models, though not specifically KO/CKO mouse models in the provided references, have revealed its roles in multiple diseases including cancers and microcephaly. These findings contribute to understanding disease mechanisms and potentially developing new therapeutic strategies.