DISEASES

Disease-gene associations mined from literature

Literature associating LRRK2 and essential tremor

LRRK2 [ENSP00000298910]

Leucine-rich repeat serine/threonine-protein kinase 2; 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; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.

Synonyms:  LRRK2,  LRRK2p,  hLRRK2,  A2VED2,  AURA17 ...

Linkouts:  STRING  Pharos  UniProt  OMIM