EN1 (gene)

Homeobox protein engrailed-1 is a protein that in humans is encoded by the "EN1" gene.
Function.
Homeobox-containing genes are thought to have a role in controlling development. In "Drosophila", the "engrailed" ("en") gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, "En1" and "En2", produced different developmental defects that frequently are lethal. The human "engrailed" homologs "1" and "2" encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system.
"Engrailed" ("En") "1" is a homeobox gene that helps primarily regulate development in the dorsal midbrain and anterior hindbrain (cerebellum and colliculi) of humans. The expression of "En1" is regulated until 13 days after fertilization by Fgf8, which controls the development of the forebrain and hindbrain. "En1" is first expressed in this region on day 9.5 after fertilization for about 12 hours until "En2" is expressed. After "En2" expression, "En1" is expressed again in other tissues such as somites and limb ectoderm throughout development. A knockout mouse model with the "En1" homeobox deleted was developed; mice died less than 24 hours after birth because they refused to feed, although they had the physical ability. The brains of the mice were studied and most of the cerebellum, colliculi, and cranial nerves 3 and 4 were missing. There was clear deletion in the mid-hindbrain, isthmus, junction region that began at day 9.5 after fertilization. All of the mice demonstrated marked forepaw deformities including fusion of digits and sixth digits. The 13th ribs and sternums displayed delayed and abnormal ossification. The mouse model demonstrated that the expression of "En1" is critical in the correct development of the brain, limbs, and sternum.