PINK1 - Serine/threonine-protein kinase PINK1, mitochondrial - human protein (Medical)
 
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PINK1 »  Serine/threonine-protein kinase PINK1, mitochondrial
 
Gene name:  PINK1
Entry whose protein(s) existence is based on evidence at protein level
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1 183 2
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

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Disease 
Parkinson disease 6 (PARK6) [MIM:605909]: A neurodegenerative disorder characterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal fluctuation and can improve after sleep. The disease is caused by mutations affecting the gene represented in this entry.  
19
  • 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

Organism-specific databases
CTD: 65018
GeneReviews: PINK1
MIM: 605909
MIM: 168600 [ phenotype ]
PharmGKB: PA33325
Polymorphism databases
DMDM: 48428484
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.