AXIN2
MIM.604025 17q24
The axins (AXIN1 and AXIN2) play an important role in the regulation of the stability of beta-catenin (MIM.116806) in the Wnt signaling pathway.
Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs and aberrations of regulation of Wnt signaling may lead to cancer.
Pathology
germline mutation in permanent tooth agenesis (oligodontia)
germline mutation in predisposition to colorectal adenocarcinoma
- mutations are expected to activate Wnt signaling
somatic mutations in hepatoblastoma (#15538750#)