disease 871 words KG: ent-dise-6d9d7e47
Contents

LRRK2 Gene Variants and Mutations

Disease Info
Kinase domainPhosphorylates target proteins (including itself through autophosphorylation)
ROC domainGTPase activity, regulates protein interactions
COR domainMediates dimerization
LRR domainProtein-protein interactions
WD40 repeatScaffold for protein complexes
Neuronal signalingRegulates various signaling pathways in neurons
Protein sortingControls vesicular trafficking through Rab GTPase interactions
Mitochondrial functionAssociates with mitochondrial outer membrane
Synaptic plasticityInvolved in dopamine receptor signaling
G2019SCommon in European and North African populations (up to 30% of familial PD in some populations)
R1441GHighly prevalent in Basque population (up to 50% of familial PD)
G2385RRisk factor in East Asian populations
DatabasesOMIMOrphanetClinicalTrialsPubMed

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