Aliases for AMER1 Gene
External Ids for AMER1 Gene
Previous HGNC Symbols for AMER1 Gene
Previous GeneCards Identifiers for AMER1 Gene
The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
GeneCards Summary for AMER1 Gene
AMER1 (APC Membrane Recruitment Protein 1) is a Protein Coding gene. Diseases associated with AMER1 include Osteopathia Striata With Cranial Sclerosis and Hyperostosis. Among its related pathways are Signaling by GPCR and S45 mutants of beta-catenin arent phosphorylated. Gene Ontology (GO) annotations related to this gene include beta-catenin binding and phosphatidylinositol-4,5-bisphosphate binding. An important paralog of this gene is AMER2.
UniProtKB/Swiss-Prot Summary for AMER1 Gene
Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development.