FOXF1
Chr 16ADforkhead box F1
Also known as: ACDMPV, FKHL5, FREAC1
FOXF1 encodes a forkhead transcription factor that activates lung-specific genes and regulates pulmonary development. Mutations cause alveolar capillary dysplasia with misalignment of pulmonary veins, a severe neonatal respiratory disorder with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.30), reflecting its critical role in pulmonary vascular development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
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
FOXF1 · 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