SUMF1
Chr 3ARsulfatase modifying factor 1
Also known as: AAPA3037, FGE, UNQ3037
This gene encodes formylglycine-generating enzyme, which activates sulfatases by oxidizing a cysteine residue to form the essential 3-oxoalanine (formylglycine) residue required for sulfatase activity. Mutations cause multiple sulfatase deficiency, an autosomal recessive lysosomal storage disorder characterized by combined deficiency of all cellular sulfatases. The pathogenic mechanism involves loss of sulfatase activation, leading to accumulation of sulfated substrates and progressive neurodegeneration.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
SUMF1 · 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