Aliases for LRRK2 Gene
External Ids for LRRK2 Gene
Previous HGNC Symbols for LRRK2 Gene
Previous GeneCards Identifiers for LRRK2 Gene
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]
GeneCards Summary for LRRK2 Gene
LRRK2 (Leucine Rich Repeat Kinase 2) is a Protein Coding gene. Diseases associated with LRRK2 include Parkinson Disease 8, Autosomal Dominant and Hereditary Late-Onset Parkinson Disease. Among its related pathways are Wnt Signaling Pathway and Pluripotency and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is LRRK1.
UniProtKB/Swiss-Prot for LRRK2 Gene
Positively regulates autophagy through a calcium-dependent activation of the CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes. Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner. Regulates neuronal process morphology in the intact central nervous system (CNS). Plays a role in synaptic vesicle trafficking. Phosphorylates PRDX3. Has GTPase activity. May play a role in the phosphorylation of proteins central to Parkinson disease.
Leucine-rich repeat kinase 2 (LRRK2), also known as dardarin, is a large multidomain protein kinase that includes leucine-rich repeats and a GTPase domain. Mutations in LRRK2 are commonly associated with late-onset Parkinson's disease (PD).