Col12a1, encoding collagen type XII α1 chain, is involved in extracellular matrix organization. Collagens are crucial for maintaining tissue structure and function, and Col12a1 may be associated with pathways related to tissue integrity and cell-matrix interactions. Its study through genetic models can provide insights into its role in biological processes and diseases [5,7].

In cancer research, COL12A1 shows potential as a biomarker and therapeutic target. In breast cancer, its expression is negatively associated with prognosis, related to immunity-related pathways, and linked to M2 macrophage infiltration, with knockdown impairing cell proliferation [1]. In osteosarcoma, it promotes cancer progression via the FAK/PI3K/AKT/mTOR pathway [2]. In intrahepatic cholangiocarcinoma, promoter hypermethylation-induced miR-424-5p downregulation leads to COL12A1 upregulation, and its knockout inhibits cell proliferation and invasiveness [3]. In gastric cancer, high expression is correlated with poor prognosis and tumor aggressiveness [4]. In pancreatic cancer, it activates cancer-associated fibroblasts, and its knockdown reduces their proliferation and migration [8].

In sports genomics, the rs970547 polymorphism of COL12A1 may be associated with elite athlete status, especially in sprint/power athletes and footballers [6]. Also, COL12A1 gene mutations are related to Ullrich congenital muscular dystrophy and myopathic Ehlers-Danlos syndrome [5,7].

In conclusion, Col12a1 plays essential roles in maintaining tissue integrity and is involved in multiple disease processes, especially in cancer development and progression, as well as in some congenital muscle and connective tissue disorders. Research using gene knockout or knockdown models has been instrumental in revealing its functions in these disease areas, providing potential targets for diagnosis, prognosis, and treatment.