IQ domain-containing protein E (IQCE)

IQ domain-containing protein E (IQCE) is a component of the EvC protein complex involved in positive regulation of ciliary Hedgehog (Hh) signaling, which is necessary for proper limb morphogenesis in humans[3][1]. It is predicted to be located on the cytoplasmic side of the plasma membrane and participate in plasma membrane protein complexes[3]. Pathogenic variants in the IQCE gene have been linked to congenital limb malformations, notably postaxial polydactyly[3][1]. IQCE interacts with EFCAB7 and serves to tether the EvC complex to the base of the primary cilium, thereby modulating Hh pathway activity critical for embryonic development[1]. There is no evidence to classify IQCE as a current therapeutic target, nor is it associated with drug interactions or roles in common adult disease pathologies[3][1][5].

Other names

KIAA10231700028P05RikPAPA7IQ motif containing E