VPS35 - Vacuolar protein sorting-associated protein 35 - human protein (Medical)
 
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VPS35 »  Vacuolar protein sorting-associated protein 35
 
Protein also known as:  Vesicle protein sorting 35.
Gene name:  VPS35
Family name: VPS35
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 52 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Parkinson disease 17 (PARK17) [MIM:614203]: An autosomal dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology 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 caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
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: 55737
MIM: 614203
PharmGKB: PA37783
Polymorphism databases
DMDM: 25453321
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.