UCHL1 - Ubiquitin carboxyl-terminal hydrolase isozyme L1 - human protein (Medical)
 
Home Recent activites arrow-down favorite My favorites arrow-down favorite My labels arrow-down Downloads
Back to ...  
Publication View
Protein
Gene
References

 
UCHL1 »  Ubiquitin carboxyl-terminal hydrolase isozyme L1   [ EC 3.4.19.12EC 6.-.-.- ]  (UCH-L1)
 
Protein also known as:  Neuron cytoplasmic protein 9.5.
Gene name:  UCHL1
Family name: Peptidase C12
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 145 1
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.  
  • 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 
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
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.