UCHL1 ubiquitin C-terminal hydrolase L1
Gene ID: 7345, updated on 13-Apr-2024Gene type: protein coding
Also known as: NDGOA; PARK5; PGP95; SPG79; PGP9.5; SPG79A; UCHL-1; Uch-L1; HEL-117; PGP 9.5; HEL-S-53
- See all available tests in GTR for this gene
- Go to complete Gene record for UCHL1
- Go to Variation Viewer for UCHL1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. GeneReviews: Not available | |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | See labs |
| Parkinson disease 5, autosomal dominant, susceptibility to | See labs |
| Spastic paraplegia 79A, autosomal dominant, with ataxia | See labs |
Genomic context
- Location:
- 4p13
- Sequence:
- Chromosome: 4; NC_000004.12 (41256928..41268455)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UCHL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- UCHL1 database
- Variation ViewerRelated Variants
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