FAXC, a gene with an initially unknown function in mammals, seems to be involved in multiple biological processes. Its role has been explored in relation to cholangiocarcinoma (CCA), muscle development, and potentially developmental delay [1,2,3].

In CCA research, knockdown of FAXC in mice reduced subcutaneous tumorigenicity. FAXC binds to tumor-promoting genes ANXA2 and c-SRC in mitochondria, enhancing SRC-dependent ANXA2 phosphorylation at tyrosine-24. Transcriptome data from xenografted CCA cell lines showed its correlation with epithelial-mesenchymal transition, hypoxia, and KRAS signaling genes [1]. In buffalo myoblasts, the enhancer Enh483 was found to regulate myoblast proliferation and differentiation by directly associating with the FAXC promoter [3].

In summary, FAXC appears to play a role in promoting tumorigenesis in CCA and is involved in the regulation of myoblast proliferation and differentiation in buffalo. The gene knockout (KO) mouse model in CCA research has been crucial in revealing its tumor-promoting role, providing potential therapeutic targets for CCA treatment.

References:

1. Fujimori, Haruna, Shima-Nakamura, Mao, Kanno, Shin-Ichiro, Yasuda, Jun, Tamai, Keiichi. 2024. FAXC interacts with ANXA2 and SRC in mitochondria and promotes tumorigenesis in cholangiocarcinoma. In Cancer science, 115, 1896-1909. doi:10.1111/cas.16140. https://pubmed.ncbi.nlm.nih.gov/38480477/

2. Okazaki, Tetsuya, Kawaguchi, Tatsuya, Saiki, Yusuke, Nanba, Eiji, Maegaki, Yoshihiro. 2022. Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion. In Human genome variation, 9, 14. doi:10.1038/s41439-022-00194-w. https://pubmed.ncbi.nlm.nih.gov/35581197/

3. Chen, Yaling, Zhao, Jiahui, Zhong, Cuiwei, Wang, Jian, Li, Hui. 2024. Enhancer Enh483 regulates myoblast proliferation and differentiation of buffalo myoblasts by targeting FAXC. In Cell and tissue research, 399, 161-171. doi:10.1007/s00441-024-03944-0. https://pubmed.ncbi.nlm.nih.gov/39688691/