UFD1
Chr 22ADubiquitin recognition factor in ER associated degradation 1
Also known as: UFD1L
UFD1 encodes an essential component of the ubiquitin-dependent proteolytic pathway that forms a complex with VCP and NPLOC4 to degrade misfolded proteins and regulate nuclear envelope formation during mitosis. Mutations cause autosomal dominant Charcot-Marie-Tooth disease type 2Y, frontotemporal dementia and/or amyotrophic lateral sclerosis 6, and inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. The gene is highly constrained against loss-of-function variants, reflecting its essential cellular functions.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
UFD1 · 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