UCHL3
Chr 13ubiquitin C-terminal hydrolase L3
Also known as: UCH-L3
The encoded protein is a deubiquitinating enzyme that removes ubiquitin from target proteins and processes ubiquitin precursors to maintain cellular ubiquitin levels. Biallelic mutations cause autosomal recessive spastic paraplegia with intellectual disability, typically presenting in early childhood with progressive lower limb spasticity and developmental delays. This gene shows very low constraint against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
115 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 | 69 | 0 | 69 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 22 | 7 | 0 | 29 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 23 | 76 | 0 | 99 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UCHL3 · 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