EDRF1
Chr 10erythroid differentiation regulatory factor 1
Also known as: C10orf137
EDRF1 encodes a transcription factor that regulates erythroid differentiation and globin gene expression by inhibiting DNA binding of GATA-1. Mutations cause erythropoietic protoporphyria with severe hemolytic anemia, an autosomal recessive disorder affecting red blood cell production and leading to significant anemia. The gene is highly constrained against loss-of-function variants (LOEUF 0.402), indicating that complete loss of function is likely deleterious.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EDRF1 · 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