LRRK2 - Leucine-rich repeat serine/threonine-protein kinase 2 - 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

 
LRRK2 »  Leucine-rich repeat serine/threonine-protein kinase 2
 
Gene name:  LRRK2
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 463 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Parkinson disease 8 (PARK8) [MIM:607060]: A slowly progressive neurodegenerative disorder characterized by bradykinesia, rigidity, resting tremor, postural instability, neuronal loss in the substantia nigra, and the presence of neurofibrillary MAPT (tau)-positive and Lewy bodies in some patients. The disease is caused by mutations affecting the gene represented in this entry.  
35
  • 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: 120892
GeneReviews: LRRK2
MIM: 607060
MIM: 168600 [ phenotype ]
PharmGKB: PA134968052
Polymorphism databases
DMDM: 294862450
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.