Even Skipped Homeobox Protein 2 (EVX2)

Genetic analysis of early embryogenesis in Drosophila provided insight into the molecular events controlling body plan formation; in particular, the process of segmentation and the specification of segment identification was shown to be controlled by a limited number of genes.

EVX2 is located at the 5' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. A 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes this gene and the HOXD9-HOXD13 genes, causes synpolydactyly, a dominantly inherited disease resulting in limb malformation.