Ccdc134, Coiled-coil domain containing 134, is a protein-coding gene with diverse functions. It has been implicated in immune-related functions as an immune cytokine, and is also involved in pathways such as affecting PCAF acetyltransferase activity through regulating hADA2a [3]. Genetic models, especially knockout (KO) mouse models, have been crucial in understanding its functions.

In KO mouse models, Ccdc134 deficiency impairs cerebellar development, causing defects in cerebellar morphogenesis, including reduced Purkinje cell number and abnormal granule cell development. It also leads to progressive motor dysfunction with deficits in motor coordination and learning, possibly through regulating Wnt signaling and Ataxin1 expression levels [1]. In T-cell-specific Ccdc134-deficient mice, there is a decrease in peripheral mature CD4+ and CD8+ T cells, resulting in impaired T-cell homeostasis and attenuated TCR-mediated responses [2]. Ccdc134 -/- embryos are embryonic lethal, associated with severe hemorrhages in the brain ventricular space and neural tube, among other defects [3].

In conclusion, Ccdc134 plays essential roles in embryonic development, cerebellar development and function, and T-cell-mediated immune responses. The KO and cell-specific conditional knockout (CKO) mouse models have significantly contributed to understanding its functions in these biological processes, which may have implications for diseases related to cerebellar pathogenesis, T-cell-mediated immune disorders, and embryonic development abnormalities.

References:

1. Yin, Sha, Liao, Qinyuan, Wang, Yida, Yi, Ming, Huang, Jing. 2021. Ccdc134 deficiency impairs cerebellar development and motor coordination. In Genes, brain, and behavior, 20, e12763. doi:10.1111/gbb.12763. https://pubmed.ncbi.nlm.nih.gov/34382738/

2. Zhang, Tianzhuo, Shi, Qianwen, Gu, Huining, Liu, Xiaofeng, Huang, Jing. 2023. CCDC134 facilitates T cell activation through the regulation of early T cell receptor signaling. In Frontiers in immunology, 14, 1133111. doi:10.3389/fimmu.2023.1133111. https://pubmed.ncbi.nlm.nih.gov/37234153/

3. Yu, Biaoyi, Zhang, Tianzhuo, Xia, Peng, Qiu, Xiaoyan, Huang, Jing. 2017. CCDC134 serves a crucial role in embryonic development. In International journal of molecular medicine, 41, 381-390. doi:10.3892/ijmm.2017.3196. https://pubmed.ncbi.nlm.nih.gov/29115376/