PDZ domain-containing protein 7 (PDZD7)

PDZ domain-containing protein 7 (PDZD7) is a scaffold/adaptor protein containing three PDZ domains and a helical domain (HHD), which is crucial for its membrane targeting and lipid-binding activities[1][2]. PDZD7 is predominantly expressed in cochlear hair cells, where it organizes the ankle-link complex by interacting with other Usher syndrome type II (USH2) proteins such as Whirlin, USH2A, and VLGR1. PDZD7 is essential for the proper assembly of the ankle-link complex and the formation and development of stereocilia in inner ear hair cells, with knockout or mutation resulting in disrupted localization of these USH2 protein complexes and leading to autosomal recessive non-syndromic hearing loss (DFNB57)[1][2]. PDZD7 acts primarily as a structural scaffolding protein rather than a classical druggable target (e.g., receptor, enzyme, transporter), and no drugs are reported that directly interact with it[1][2][3].

Other names

PDZK7FLJ23209bA108L7.8DFNB57PDZD7PDZ domain-containing protein 7deafness, autosomal recessive 57