AMER1
Chr XXLDAPC membrane recruitment protein 1
Also known as: FAM123B, OSCS, WTX
The AMER1 protein regulates canonical Wnt signaling by binding phosphatidylinositol 4,5-bisphosphate and interacting with components of the beta-catenin destruction complex. Mutations cause osteopathia striata with cranial sclerosis, a skeletal dysplasia with X-linked dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.85, LOEUF 0.37).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AMER1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools