Disease-gene associations mined from literature

Literature associating APPL1 and congenital fibrosis of the extraocular muscles

APPL1 [ENSP00000288266]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM