UROS
Chr 10ARuroporphyrinogen III synthase
Also known as: Mgu, UROIIIS
The encoded protein catalyzes the cyclization of hydroxymethylbilane to uroporphyrinogen III, a critical step in heme biosynthesis that serves as the branch point for porphyrin synthesis pathways. Mutations cause congenital erythropoietic porphyria (Gunther's disease), which follows autosomal recessive inheritance and typically presents in early infancy with severe photosensitivity, hemolytic anemia, and cutaneous manifestations. The gene shows relatively low constraint to loss-of-function variation (pLI = 0.03, LOEUF = 0.73), consistent with the recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UROS · 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