Ccdc134, Coiled-coil domain containing 134, has diverse functions. It can act as an immune cytokine, exerts antitumor effects, and is involved in regulating hADA2a to affect PCAF acetyltransferase activity. It is also associated with pathways like Wnt signaling and N-glycosylation, playing a crucial role in various biological processes and disease conditions. Genetic models, especially KO/CKO mouse models, have been instrumental in understanding its functions [1,4].

In KO mouse models, Ccdc134 deficiency leads to abnormal cerebellar development. Selective deletion in neural stem cells causes cerebellar morphogenesis defects, such as decreased Purkinje cell number and dendritic growth, along with abnormal granule cell development, resulting in progressive motor dysfunction [1]. In breast cancer, its up-regulation is associated with lower survival and immune infiltrates invasion, and it may serve as a biomarker of poor prognosis and immunotherapy target [2]. T cell-specific deletion of Ccdc134 reduces peripheral mature T cells, impairs T cell homeostasis and TCR-mediated responses [3]. In embryo development, Ccdc134-/-embryos are embryonic lethal, with defects in cell proliferation and vascular endothelial cells [5]. In premature ovarian insufficiency mouse models, overexpression of Ccdc134 improves ovarian function, reduces granulosa cell apoptosis, and enhances angiogenesis by interacting with INHA [6].

In conclusion, Ccdc134 is essential for normal development and function in multiple biological systems. The KO/CKO mouse models have revealed its significance in diseases such as cerebellar pathogenesis, breast cancer, T cell-related disorders, embryo development abnormalities, and premature ovarian insufficiency, providing valuable insights into potential therapeutic strategies.