EN1
Function
Required for proper formation of the apical ectodermal ridge and correct dorsal-ventral patterning in the limb.
Involvement in disease
ENDOVE syndrome, limb-only type
ENDOVESL
An autosomal recessive disorder characterized by severe shortening and deformation of the legs and feet, 3/4 syndactyly of the hands, and toenails partially displaced to plantar surface. Radiographs show normal femora but severely shortened tibiae, triangular fibulae and malformed or absent bones in the feet. In addition, genitourinary anomalies have been observed.
None
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.
ENDOVE syndrome, limb-brain type
ENDOVESLB
An autosomal recessive disorder characterized by marked mesomelic shortening of the lower limbs, severe hypoplasia of the tibia and fibula, absent talus, and rudimentary and short foot bones. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. Affected individuals manifest neurologic symptoms including seizures and generalized hypotonia. Brain imaging reveals absence of the cerebellum and hypoplasia of the brain stem.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the engrailed homeobox family.
Cellular localization
- Nucleus
Alternative names
Homeobox protein engrailed-1, Homeobox protein en-1, Hu-En-1, EN1