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Beschreibung

Leucine-rich repeat serine/threonine-protein kinase 1 (UniProt: Q38SD2, Leucine-rich repeat kinase 1) is encoded by the LRRK1 (also known as KIAA1790) gene (Gene ID: 79705) in human. Leucine-rich repeat kinase 1 is a member of the ROCO family of protein kinases. Two isoforms of Leucine-rich repeat kinase 1 have been described that are generated by alternative splicing. It contains a ROC (Ras in complex proteins) domain together with a MAPKKK-like kinase domain and several protein protein interactions. It is reported to form a complex with activated EGFR via interaction with Grb2. Subsequently, it is internalized to early endosomes along with EGFR. Leucine-rich repeat kinase 1 also regulates EGFR transport from early to late endosomes and is involved in regulating the motility of EGF-containing early endosomes that is dependent on its kinase activity. Leucine-rich repeat kinase 1 is also reported to play a role in regulating bone mass and mice with defective gene are prone to osteoporosis, increased bone mineralization, and diminished bone resorption. (Ref.: Hanafusa, H et al. (2011). Nature Commun. 2, Article number: 158).