USP19
Chr 3ubiquitin specific peptidase 19
Also known as: ZMYND9
USP19 encodes a deubiquitinating enzyme that removes ubiquitin from proteins to prevent their degradation, regulating processes including muscle development, endoplasmic reticulum protein quality control, and cellular responses to hypoxia. Mutations cause autosomal recessive developmental and epileptic encephalopathy with early-onset seizures and severe developmental delay. The gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
USP19 · 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
External Resources
Links to major genomics databases and tools