AMER3 Chromosome 2

APC membrane recruitment protein 3
1 variant 1 Health Risk

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What This Gene Does
Predicted to enable beta-catenin binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in regulation of canonical Wnt signaling pathway. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
APC membrane recruitment proteins
Locus Type
gene with protein product
Location
2q21.1
Ensembl
ENSG00000178171
Associated Conditions (1)
Esophageal atresia/tracheoesophageal fistula
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS768719549 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
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