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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]
[中文简述(自动翻译):]  此基因是富含亮氨酸重复激酶家族的成员,并且编码的蛋白质具有ankryin重复区域,富含亮氨酸重复序列(LRR)结构域,激酶结构域,DFG样基序,一个RAS域中,GTP酶结构域,MLK样结构域,和一个WD40域。该蛋白质是本主要在细胞质中也与线粒体外膜关联。在这种基因突变与帕金森病-8相关联。 [由RefSeq的,2008年7月提供]
LRRK2基因(以及对应的蛋白质)的细胞分布位置:
LRRK2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
PARKINSON DISEASE 8 (disorder) | 0.44 | 10 | 20 | CLINVAR_CTD_human_MGD_UNIPROT |
Parkinson Disease | 0.435830327 | 289 | 11 | BeFree_CTD_human_GAD_GWASCAT_LHGDN |
Parkinsonian Disorders | 0.15915715 | 77 | 6 | BeFree_CTD_human_LHGDN |
Renal Cell Carcinoma | 0.12 | 1 | 0 | CTD_human |
Endometriosis | 0.12 | 1 | 0 | CTD_human |
Nerve Degeneration | 0.12 | 1 | 0 | CTD_human |
Alzheimer's Disease | 0.020922225 | 9 | 3 | BeFree_GAD_LHGDN |
Neurodegenerative Disorders | 0.018236263 | 17 | 2 | BeFree_LHGDN |
Multiple System Atrophy | 0.01162585 | 7 | 2 | BeFree_GAD_LHGDN |
Progressive supranuclear palsy | 0.01099709 | 5 | 0 | BeFree_GAD_LHGDN |
Essential Tremor | 0.008544182 | 5 | 6 | BeFree_GAD_LHGDN |
Dementia | 0.007348794 | 9 | 3 | BeFree_LHGDN |
Crohn Disease | 0.006362715 | 8 | 1 | BeFree_GAD |
Lewy Body Disease | 0.004353001 | 6 | 0 | BeFree_LHGDN |
Autosomal Dominant Parkinsonism | 0.004071628 | 15 | 2 | BeFree |
Frontotemporal dementia | 0.002909916 | 3 | 1 | BeFree_GAD |
Atrophic | 0.00272435 | 1 | 0 | LHGDN |
PARKINSON DISEASE, LATE-ONSET | 0.002714419 | 10 | 2 | BeFree |
Parkinson Disease, Familial, Type 1 | 0.002714419 | 10 | 3 | BeFree |
Inflammatory Bowel Diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
Primary Progressive Aphasia (disorder) | 0.002638474 | 1 | 0 | BeFree_GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
dementia in parkinson's disease | 0.002367032 | 1 | 0 | GAD |
Gait Ataxia | 0.002367032 | 1 | 0 | GAD |
Heredodegenerative Disorders, Nervous System | 0.002367032 | 1 | 0 | GAD |
Leprosy, Multibacillary | 0.002367032 | 1 | 0 | GAD |
Leprosy, Paucibacillary | 0.002367032 | 1 | 0 | GAD |
Tremor | 0.002171535 | 8 | 2 | BeFree |
Impaired cognition | 0.002171535 | 8 | 2 | BeFree |
Motor symptoms | 0.002171535 | 8 | 3 | BeFree |
Presenile dementia | 0.001900093 | 7 | 3 | BeFree |
Leprosy | 0.001900093 | 7 | 0 | BeFree |
Dyskinetic syndrome | 0.001628651 | 6 | 1 | BeFree |
Neuroblastoma | 0.001357209 | 5 | 2 | BeFree |
Idiopathic disease | 0.001357209 | 5 | 1 | BeFree |
Central neuroblastoma | 0.001357209 | 5 | 2 | BeFree |
Shy-Drager Syndrome | 0.001085767 | 4 | 2 | BeFree |
Neurofibrillary degeneration (morphologic abnormality) | 0.001085767 | 4 | 1 | BeFree |
Tauopathies | 0.001085767 | 4 | 0 | BeFree |
Amyotrophic Lateral Sclerosis | 0.000814326 | 3 | 0 | BeFree |
Movement Disorders | 0.000814326 | 3 | 1 | BeFree |
Muscle Rigidity | 0.000814326 | 3 | 1 | BeFree |
Frontotemporal Lobar Degeneration | 0.000814326 | 3 | 1 | BeFree |
GRN-related frontotemporal dementia | 0.000814326 | 3 | 1 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 1 | BeFree |
Malignant neoplasm of skin | 0.000542884 | 2 | 1 | BeFree |
Sleep disturbances | 0.000542884 | 2 | 1 | BeFree |
Pick Disease of the Brain | 0.000542884 | 2 | 1 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 1 | BeFree |
Autosomal Recessive Parkinsonism | 0.000542884 | 2 | 0 | BeFree |
Sleep Disorders | 0.000542884 | 2 | 1 | BeFree |
Anosmia | 0.000271442 | 1 | 1 | BeFree |
Anxiety Disorders | 0.000271442 | 1 | 1 | BeFree |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Colitis | 0.000271442 | 1 | 0 | BeFree |
Constipation | 0.000271442 | 1 | 0 | BeFree |
Mental Depression | 0.000271442 | 1 | 1 | BeFree |
Depressive disorder | 0.000271442 | 1 | 1 | BeFree |
Dystonia | 0.000271442 | 1 | 0 | BeFree |
Helminthiasis | 0.000271442 | 1 | 0 | BeFree |
Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
Motor Neuron Disease | 0.000271442 | 1 | 0 | BeFree |
Depressive Symptoms | 0.000271442 | 1 | 1 | BeFree |
Hypokinesia | 0.000271442 | 1 | 1 | BeFree |
Acute myocardial infarction | 0.000271442 | 1 | 1 | BeFree |
Muscular stiffness | 0.000271442 | 1 | 1 | BeFree |
Bradykinesia | 0.000271442 | 1 | 0 | BeFree |
Dystonia Disorders | 0.000271442 | 1 | 0 | BeFree |
Excessive daytime somnolence | 0.000271442 | 1 | 1 | BeFree |
Dyssomnias | 0.000271442 | 1 | 1 | BeFree |
Dystonia, Primary | 0.000271442 | 1 | 1 | BeFree |
Endothelial dysfunction | 0.000271442 | 1 | 0 | BeFree |
hormone related neoplasm/cancer | 0.000271442 | 1 | 0 | BeFree |
Unspecified visual loss | 0.000271442 | 1 | 1 | BeFree |
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