Literature associating APPL1 and Joubert syndrome 2
Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1; Adapter protein that interacts with proteins involved in different cellular signaling pathways. Required for the regulation of cell proliferation in response to extracellular signals from an early endosomal compartment. Links Rab5 to nuclear signal transduction. Involved in the regulation of the insulin receptor signaling pathway; BAR-PH domain containing
Synonyms: APPL1, APPL1p, hAPPL1, C9JAB0, C9K0C4 ...