Epidermal Growth Factor Receptor Pathway Substrate 15 Like Protein 1 (EPS15L1)

EPS15L1 interacts with EPS15, AGFG1/HRB and AGFG2/HRBL. Associates with the clathrin-associated adapter protein complex 2 (AP-2). Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis.Congenital limb malformations are the second most common birth defects observed in infants. Split hand foot malformation (SHFM), also known as central ray deficiency, ectrodactyly and cleft hand/foot, occurs isolated or in combination with other malformations. The deletion is 0.99 Mb in size and contains 28 genes. The proximal breakpoint of the deletion is in EPS15L1, which may be involved in vertebrate limb development.