EF-hand calcium-binding domain-containing protein 7 (EFCAB7)

EF-hand calcium-binding domain-containing protein 7 (EFCAB7) is a cytosolic, non-transmembrane protein characterized by the presence of multiple **EF-hand domains**, which are helix-loop-helix motifs mediating **calcium ion binding**[4][1][2]. EFCAB7 is a core component of the EvC protein complex at the base of primary cilia, where it functions as an **adaptor protein** linking the EVC-EVC2 subcomplex to IQCE, a process essential for proper localization and function of the EvC complex[2]. This protein is a **positive regulator of Hedgehog (Hh) signaling**, crucial for skeletal development; mutations or depletion of EFCAB7 disrupt EvC complex assembly and sublocalization, leading to Hh pathway impairment and contributing to disorders like Weyers syndrome[2]. EFCAB7 is predicted to participate in regulating nuclear import of proteins and, through its EF-hand motifs, likely mediates conformational changes upon calcium binding that facilitate protein-protein interactions in signal transduction[4][5][2]. No evidence currently identifies EFCAB7 as a direct therapeutic drug target, nor are there drugs or established biomarkers associated with this protein. Its functional role appears restricted to structural and regulatory activity within protein complexes related to ciliary signaling and development.

Other names

KIAA1799RP4-534K7.1EFCAB7