PARK7 - Protein DJ-1 - human protein (Medical)
 
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PARK7 »  Protein DJ-1   [ EC 3.4.-.- ]
 
Protein also known as:  Parkinson disease protein 7.
Gene name:  PARK7
Family name: Peptidase C56
Entry whose protein(s) existence is based on evidence at protein level
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1 215 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Parkinson disease 7 (PARK7) [MIM:606324]: A neurodegenerative disorder characterized by resting tremor, postural tremor, bradykinesia, muscular rigidity, anxiety and psychotic episodes. PARK7 has onset before 40 years, slow progression and initial good response to levodopa. Some patients may show traits reminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease). 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:
Amyotrophic lateral sclerosis-parkinsonism-dementia complex  90020  
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]
Tumor suppressor  definition   [KW-0043]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 11315
MIM: 606324
MIM: 168600
PharmGKB: PA32946
Polymorphism databases
DMDM: 56404943
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.