PARK2 - E3 ubiquitin-protein ligase parkin - human protein (Medical)
 
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PARK2 »  E3 ubiquitin-protein ligase parkin   [ EC 6.3.2.- ]
 
Protein also known as:  Parkinson juvenile disease protein 2 (Parkinson disease protein 2).
Gene name:  PARK2
Family name: RBR » Parkin
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

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Disease 
Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. Disease susceptibility may be associated with variations affecting the gene represented in this entry. Heterozygous mutations act as susceptibility alleles for late-onset Parkinson disease (PubMed12730996 and PubMed12629236).  
2
  • CuratedUniProtKB
Parkinson disease 2 (PARK2) [MIM:600116]: A neurodegenerative disorder characterized by bradykinesia, rigidity, postural instability, tremor, and onset usually before 40. It differs from classic Parkinson disease by early DOPA-induced dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. Dementia is absent. Pathologically, patients show loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease; however, Lewy bodies (intraneuronal accumulations of aggregated proteins) are absent. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Defects in PARK2 may be involved in the development and/or progression of ovarian cancer.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
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

CTD: 5071
MIM: 600116
MIM: 168600
PharmGKB: PA32942
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.