EvC ciliary complex subunit 1 (EVC)

EvC ciliary complex subunit 1 (EVC) is a transmembrane protein found in primary cilia, microscopic cellular projections acting as signaling antennae. EVC and its closely linked partner EVC2 form the EVC-EVC2 complex, which specifically localizes to the EvC zone of the ciliary membrane, adjacent to the transition zone. This complex regulates Hedgehog signaling within cilia, a pathway critical for normal growth and skeletal development. Mutations in EVC disrupt this signaling, resulting in the genetic disorders Ellis-van Creveld syndrome and Weyers acrofacial dysostosis. EVC is not a receptor, enzyme, or transporter, but rather a structural protein with a key developmental regulatory role in cilia; there are no direct therapeutic agents nor mechanisms of action targeting EVC in current medical use.

Other names

DWF-1EVC1Ellis van Creveld syndrome proteinEllis van Creveld proteinEVCLEVC_HUMAN

Null. Drugs targeting EVC are not described, so no mechanism of action is applicable.