EDF1
Chr 9endothelial differentiation related factor 1
Also known as: CFAP280, EDF-1, MBF1
The protein functions as a transcriptional coactivator that stimulates nuclear receptor activities and enhances DNA-binding activity of transcription factors, while also regulating nitric oxide synthase activity and playing roles in endothelial cell differentiation and lipid metabolism. This gene is highly constrained against loss-of-function variants (LOEUF 0.509), but no definitive human disease associations have been established in the provided data. The inheritance pattern for potential disease associations remains to be determined.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EDF1 · 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