DISEASES

Disease-gene associations mined from literature

Literature associating EPS15 and Troyer syndrome

EPS15 [ENSP00000360798]

Epidermal growth factor receptor pathway substrate 15; Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta- 1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2; EF-hand domain containing

Synonyms:  EPS15,  EPS15p,  hEPS15,  B1AUU8,  EPS15-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM