Required for proper formation of the apical ectodermal ridge and correct dorsal-ventral patterning in the limb. The gene represented in this entry is involved in disease pathogenesis. Homozygous structural variants on chromosome 2 located 300 kb upstream of EN1 result in altered EN1 expression with pathological consequences. The disease is caused by variants affecting the gene represented in this entry. Belongs to the engrailed homeobox family.