leucine-rich repeat serine/threonine-protein kinase 2; dardarin (LRRK2, PARK8)
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Function
- may play a role in the phosphorylation of proteins involved in Parkinson disease
- may also have GTPase activity
- interacts with PARK2
Structure
- belongs to the protein kinase superfamily, TKL Ser/Thr protein kinase family
- contains 12 LRR repeats (leucine-rich repeats)
- contains 1 protein kinase domain
- contains 1 Roc domain
Compartment
- cytoplasm, peripheral membrane
- localized in the cytoplasm
- associated with cellular membrane structures
- associates with mitochondrial outer membrane
Expression
- expressed in heart, liver> brain > placenta, lung, skeletal muscle, kidney, pancreas
- in brain, expressed in the cerebellum, cerebral cortex, medulla oblongata, spinal cord occipital pole, frontal lobe, temporal lobe & putamen
- expression is particularly high in areas with dopamine receptors
Pathology
- defects in LRRK2 are the cause of Parkinson disease 8 (PARK8)
- LRRK2 G2019S mutation carriers with milder progression of motor symptoms than idiopathic Parkinson's disease, but no difference in cognitive function[2]
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q5S007.html
- ↑ 2.0 2.1 George J. Genetic Mutation Slows Motor Symptoms in PD. Research could inform trials of new anti-Parkinson's disease drugs. MedPage Today January 11, 2018 https://www.medpagetoday.com/neurology/parkinsonsdisease/70438
Saunders-Pullman R, Mirelman A, Alcalay RN et al Progression in the LRRK2-Asssociated Parkinson Disease Population. JAMA Neurol. Published online January 8, 2018 PMID: https://www.ncbi.nlm.nih.gov/pubmed/29309488 https://jamanetwork.com/journals/jamaneurology/article-abstract/2668463
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=120892
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:120892
- OMIM: https://mirror.omim.org/entry/168600
- OMIM: https://mirror.omim.org/entry/607060
- OMIM: https://mirror.omim.org/entry/609007
- UniProt: http://www.uniprot.org/uniprot/Q5S007.html