AXIN2

Description

The AXIN2 (axin 2) is a protein-coding gene located on chromosome 17.

AXIN2, also known as Axin-like protein (Axil), axis inhibition protein 2 (AXIN2), or conductin, is a protein encoded by the AXIN2 gene. It plays a crucial role in regulating beta-catenin stability within the Wnt signaling pathway. AXIN2, similar to its rodent counterparts, organizes a complex involving APC, beta-catenin, GSK3-beta, and itself, ultimately leading to beta-catenin degradation. AXIN2 and AXIN1 work together to control pro-oncogenic β-catenin signaling. Inhibiting tankyrase, a protein that interacts with AXIN, can enhance the activity of the β-catenin destruction complex, potentially offering a therapeutic approach for β-catenin-dependent cancers. Deregulation of beta-catenin is a key factor in the development of various cancers. The AXIN2 gene resides on chromosome 17, a region often exhibiting loss of heterozygosity in cancers like breast cancer and neuroblastoma. Mutations in AXIN2 have been linked to colorectal cancer with defective mismatch repair. Hypodontia, a common dental condition characterized by missing permanent teeth, affects approximately 20% of the population and is associated with abnormalities in teeth, lip, and palate development.

AXIN2 is also known as AXIL, ODCRCS.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing