EVC Activators

EVC, or Ellis-van Creveld syndrome protein, is a crucial component of the primary cilium, a cellular organelle that acts as a signaling hub for various pathways, including the Hedgehog (Hh) pathway. The EVC gene, along with its related gene EVC2, is implicated in the rare genetic disorder Ellis-van Creveld syndrome (EvC), characterized by short stature, polydactyly, heart defects, and distinctive facial features.The EVC protein is involved in the transduction of the Hh signaling pathway, which is essential for patterning and growth during embryonic development. It is particularly important in the development of bones and teeth. The Hh pathway, when activated, drives the expression of target genes that govern cell fate, growth, and differentiation.

Mutations in the EVC gene disrupt the normal function of the protein, leading to the spectrum of abnormalities seen in EvC syndrome. These mutations can affect the structure or amount of EVC protein, impairing its role in the Hh pathway and resulting in the improper development of various tissues, particularly affecting chondrocytes in the growth plate of bones.Research on EVC has provided insights into the broader implications of primary cilia in human disease. Beyond EvC syndrome, dysfunction in ciliary proteins is linked to a class of diseases known as ciliopathies, which can affect multiple organ systems.