UCHL1 Chromosome 4
Ubiquitin C-terminal hydrolase L1
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What This Gene Does
The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Ubiquitin C-terminal hydrolases
Locus Type
gene with protein product
Location
4p13
Ensembl
ENSG00000154277
Associated Conditions (9)
Parkinson disease 5
autosomal dominant
susceptibility to
Uterine corpus endometrial carcinoma
Colon adenocarcinoma
UCHL1-related disorder
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Spastic paraplegia 79A
with ataxia
Key Variants
RS139583787
Conflicting classifications of pathogenicity
Parkinson disease 5, autosomal dominant, susceptibility to
Health Risk
RS150601238
Conflicting classifications of pathogenicity
Parkinson disease 5, autosomal dominant, susceptibility to
Health Risk
RS765745344
Conflicting classifications of pathogenicity
Parkinson disease 5, autosomal dominant, susceptibility to
Health Risk
RS1554004920
Likely pathogenic
Health Risk
RS1554004931
Likely pathogenic
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Health Risk
RS2154087252
Likely pathogenic
Health Risk
RS1057519600
Pathogenic
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Health Risk
RS1310363710
Pathogenic
Spastic paraplegia 79A, autosomal dominant, with ataxia
Health Risk
RS1781002042
Pathogenic
Spastic paraplegia 79A, autosomal dominant, with ataxia
Health Risk
RS2154087069
Pathogenic
Health Risk
RS2154087189
Pathogenic
Spastic paraplegia 79A, autosomal dominant, with ataxia
Health Risk
RS2551922153
Pathogenic
Spastic paraplegia 79A, autosomal dominant, with ataxia
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139583787 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 5, autosomal dominant, susceptibility to |
| RS150601238 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 5, autosomal dominant, susceptibility to |
| RS765745344 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 5, autosomal dominant, susceptibility to |
| RS1554004920 | Health Risk | Likely pathogenic | — |
| RS1554004931 | Health Risk | Likely pathogenic | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome |
| RS2154087252 | Health Risk | Likely pathogenic | — |
| RS1057519600 | Health Risk | Pathogenic | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome |
| RS1310363710 | Health Risk | Pathogenic | Spastic paraplegia 79A, autosomal dominant, with ataxia |
| RS1781002042 | Health Risk | Pathogenic | Spastic paraplegia 79A, autosomal dominant, with ataxia |
| RS2154087069 | Health Risk | Pathogenic | — |
| RS2154087189 | Health Risk | Pathogenic | Spastic paraplegia 79A, autosomal dominant, with ataxia |
| RS2551922153 | Health Risk | Pathogenic | Spastic paraplegia 79A, autosomal dominant, with ataxia |
| RS397515634 | Health Risk | Pathogenic | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome |
| RS1781001592 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia 79A, autosomal dominant, with ataxia |
| RS1781070341 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia 79A, autosomal dominant, with ataxia |
| RS2154087267 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia 79A, autosomal dominant, with ataxia |
| RS749368841 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia 79A, autosomal dominant, with ataxia |
| RS121917767 | Health Risk | risk factor | Parkinson disease 5, autosomal dominant, susceptibility to |