Disease-gene associations mined from literature

Literature associating AMER1 and syndromic X-linked intellectual disability

AMER1 [ENSP00000329117]

Wilms tumor gene on the X chromosome protein; 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; Belongs to the Amer family.

Synonyms:  AMER1,  AMER1p,  hAMER1,  Q5JTC6,  FAM123B ...

Linkouts:  STRING  Pharos  UniProt