FECH
Chr 18ARferrochelatase
Also known as: EPP, EPP1, FCE
The mitochondrial enzyme ferrochelatase catalyzes the insertion of ferrous iron into protoporphyrin IX in the final step of heme biosynthesis. Mutations cause erythropoietic protoporphyria, a metabolic disorder characterized by painful photosensitivity and potential liver complications, inherited in an autosomal recessive pattern. The gene shows low constraint to loss-of-function variants (pLI 0.003, LOEUF 0.616), consistent with the recessive inheritance pattern.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FECH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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