USP17L29
Chr 4ubiquitin specific peptidase 17 like family member 29
This deubiquitinating enzyme removes ubiquitin from target proteins to regulate cell proliferation, cell cycle progression, apoptosis, and cellular responses to viral infection. Currently, no human diseases have been definitively associated with mutations in USP17L29, and the inheritance pattern remains to be established. The protein localizes to the nucleolus and exhibits RNA binding activity in addition to its deubiquitinase function.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
76 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 67 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 4 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 0 |
| Total | — | 76 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
USP17L29 · 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 →No open access results found
External Resources
Links to major genomics databases and tools