Reactome: A Curated Pathway Database

Deletions in the AMER1 gene destabilize the destruction complex

Stable Identifier
R-HSA-5467343
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

Genomic deletions of the entire AMER1/WTX gene occur in about 12% of Wilms tumors, a pediatric kidney cancer. Nonsense and missense mutations have also been identified (Ruteshouser et al, 2008; Wegert et al, 2009). AMER1 is a known component of the destruction complex and interacts directly with beta-catenin through the C-terminal half (Major et al, 2007). siRNA depletion of AMER1 in mammalian cells stabilizes cellular beta-catenin levels and increases the expression of a beta-catenin-dependent reporter gene, suggesting that AMER1 is a tumor suppressor gene (Major et al, 2007; reviewed in Huff, 2011).

Literature References
Participants
Participant Of
Disease
Diseases
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer