该基因是富含亮氨酸重复激酶家族的一员,编码一种蛋白,其具有ankyin重复区、富含亮氨酸重复区(lrr)结构域、激酶结构域、类dfg基序、ras结构域、gtpase结构域、类mlk结构域和wd40结构域。这种蛋白质主要存在于细胞质中,但也与线粒体外膜有关。该基因突变与帕金森病-8有关。[由RefSeq提供,2008年7月]
This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin 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 disease-8. [provided by RefSeq, Jul 2008]
基因名: | LRRK2 |
别名: | PARK8,RIPK7,ROCO2,AURA17,DARDARIN |
基因ID: | 120892 |
Chromosome: (GRCh37) | 12 Start: 40618813 End: 40763087 Strand: |
信号通路: |