C2 domain containing 3 centriole elongation regulator (C2CD3)

C2 domain containing 3 centriole elongation regulator (C2CD3) encodes a centriolar protein essential for the elongation and maturation of centrioles within cells, particularly through the assembly of centriolar distal appendages and recruitment of ciliogenic proteins needed for cilium formation. C2CD3 contains both classical (PKC-like) and non-classical C2 domains, which facilitate membrane targeting, vesicle docking, and possibly microtubule stabilization. It is evolutionarily conserved and localizes to the distal ends of both mother and daughter centrioles. Loss of function, due to mutation, results in defective cilium formation and signaling—especially affecting Hedgehog pathway signaling—and underpins the pathogenesis of ciliopathies such as oral-facial-digital syndrome type XIV. These disorders lead to craniofacial, oral, and limb malformations due to impaired cilium-dependent cell signaling and tissue morphogenesis[1][2][3][4].

Other names

C2CD3C2 calcium-dependent domain containing 3

C2CD3 is not a recognized pharmacological target; there are no drugs with defined mechanisms of action on this protein.