UCHL1 - Ubiquitin carboxyl-terminal hydrolase isozyme L1 - human protein (Medical)
 
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UCHL1 »  Ubiquitin carboxyl-terminal hydrolase isozyme L1
 
Gene name:  UCHL1
Family name: Peptidase C12
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Parkinson disease 5 (PARK5) [MIM:613643]: A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia. The disease is caused by mutations affecting the gene represented in this entry.  
4
  • CuratedUniProtKB
Neurodegeneration with optic atrophy, childhood-onset (NDGOA) [MIM:615491]: A progressive neurodegenerative syndrome characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfuction, and spasticity with upper motor neuron dysfunction. The disease is caused by mutations affecting the gene represented in this entry.  
2
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity  352654  
Young adult-onset Parkinsonism  2828  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Neurodegeneration  definition   [KW-0523]
Parkinson disease  definition   [KW-0907]
Parkinsonism  definition   [KW-0908]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 7345
GeneReviews: UCHL1
MIM: 615491
MIM: 613643
PharmGKB: PA37160
Polymorphism databases
DMDM: 136681
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.