LRRK2: Difference between revisions
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==References== | ==References== | ||
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==Further reading== | ==Further reading== | ||
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Revision as of 18:58, 4 September 2012
| Leucine-rich repeat kinase 2 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | LRRK2 ; AURA17; PARK8; RIPK7; ROCO2 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 18982 | ||||||||||
| |||||||||||
| RNA expression pattern | |||||||||||
| File:PBB GE LRRK2 gnf1h07577 s at tn.png | |||||||||||
| File:PBB GE LRRK2 gnf1h07580 s at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
LRRK2 is a protein member of the leucine-rich repeat kinase family.
The LRRK2 gene encodes a protein with an ankyrin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson's disease type 8.[1]
References
Further reading
- Singleton AB (2005). "Altered alpha-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin". Trends Neurosci. 28 (8): 416–21. doi:10.1016/j.tins.2005.05.009. PMID 15955578.
- Mata IF, Wedemeyer WJ, Farrer MJ; et al. (2006). "LRRK2 in Parkinson's disease: protein domains and functional insights". Trends Neurosci. 29 (5): 286–93. doi:10.1016/j.tins.2006.03.006. PMID 16616379.
- Haugarvoll K, Wszolek ZK (2006). "PARK8 LRRK2 parkinsonism". Current neurology and neuroscience reports. 6 (4): 287–94. PMID 16822348.
- Bonifati V (2006). "The pleomorphic pathology of inherited Parkinson's disease: lessons from LRRK2". Current neurology and neuroscience reports. 6 (5): 355–7. PMID 16928343.
- Schapira AH (2006). "The importance of LRRK2 mutations in Parkinson disease". Arch. Neurol. 63 (9): 1225–8. doi:10.1001/archneur.63.9.1225. PMID 16966498.
- Whaley NR, Uitti RJ, Dickson DW; et al. (2006). "Clinical and pathologic features of families with LRRK2-associated Parkinson's disease". J. Neural Transm. Suppl. (70): 221–9. PMID 17017533.
- Gasser T (2006). "Molecular genetic findings in LRRK2 American, Canadian and German families". J. Neural Transm. Suppl. (70): 231–4. PMID 17017534.
- Tan EK (2007). "Identification of a common genetic risk variant (LRRK2 Gly2385Arg) in Parkinson's disease". Ann. Acad. Med. Singap. 35 (11): 840–2. PMID 17160203.
External links
- LRRK2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)