POFUT1
Chr 20ADprotein O-fucosyltransferase 1
Also known as: DDD2, FUT12, O-FUT, O-Fuc-T, O-FucT-1, OFUCT1
The POFUT1 protein is a glycosyltransferase that adds fucose to epidermal growth factor-like repeats on cell surface proteins, playing a crucial role in NOTCH signaling pathway regulation. Mutations cause Dowling-Degos disease 2, an autosomal dominant genodermatosis. This gene is highly constrained against loss-of-function mutations (pLI 0.96), indicating that such variants are likely to have significant functional consequences.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POFUT1 · 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