Q15910

Ezh2 also known as ENX-1, KMT6 is a member of the Polycomb group (PcG) gene family. Ezh2 plays a crucial role in regulating gene expression during embryonic development by repressing homeotic loci, which is essential for proper body plan formation. Ezh2 is predominantly expressed during early embryogenesis and later becomes localized to the central and peripheral nervous systems, as well as sites of fetal hematopoiesis, highlighting Ezh2′s importance in both developmental and adult tissue contexts. Ezh2 interacts with the proto-oncogene product Vav, suggesting involvement in the proliferation of both normal and malignant hematopoietic cells. Alterations in the regulation of target genes by Ezh2 may contribute to specific phenotypes associated with Down syndrome, underscoring Ezh2′s significance in both health and disease.