DISEASES

Disease-gene associations mined from literature

Literature associating EPS15L1 and split hand-foot malformation 6

EPS15L1 [ENSP00000393313]

Epidermal growth factor receptor pathway substrate 15-like 1; Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. 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:  EPS15L1,  EPS15L1p,  hEPS15L1,  A0A024R7G6,  A5PKY0 ...

Linkouts:  STRING  Pharos  UniProt