APC membrane recruitment protein 1
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Osteopetrosis
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)osteopathia striata with cranial sclerosis
Osteopathia striata - cranial sclerosis
colorectal adenocarcinoma
cancer
colon adenocarcinoma
hereditary disease
colorectal cancer
cleft palate
chronic myelogenous leukemia, BCR-ABL1 positive
Nephroblastoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
APC membrane recruitment protein 1
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
Curated MONDO disease pages that list AMER1 among their top associated genes.
AMER1 · Q5JTC6
Mean pLDDT
48.3/ 100
Very low
1,135 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
