USP24
Chr 1ubiquitin specific peptidase 24
USP24 encodes a deubiquitinating enzyme that cleaves ubiquitin from target proteins to regulate their stability, including proteins involved in DNA damage response (DDB2, TP53), cell survival (MCL1), and iron metabolism through ferritinophagy. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.147), suggesting mutations would likely cause severe developmental effects, though specific disease associations have not yet been established. Current evidence suggests autosomal inheritance patterns would be expected for any associated disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
316 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 226 | 5 | 0 | 231 |
Likely Benign | 0 | 4 | 0 | 1 | 5 |
Benign | 0 | 1 | 0 | 4 | 5 |
| Total | 0 | 231 | 17 | 5 | 253 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
USP24 · 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