PDZ domain-containing protein 4 (PDZD4)

PDZ domain-containing protein 4 (PDZD4) is a scaffold protein predominantly located at the cell cortex, below the plasma membrane. It is expressed at restricted levels during normal fetal brain development, but its expression is aberrantly increased in some cancers, particularly synovial sarcoma, where it promotes cell proliferation. While its broader physiological role is incompletely defined, PDZD4 belongs to a family of proteins featuring PDZ domains, enabling it to mediate specific protein–protein interactions in cellular signaling complexes. Some paralogs in this protein family possess E3 ubiquitin ligase activity, suggesting involvement in ubiquitin-mediated proteostasis, but this function in PDZD4 remains speculative. Current data support its possible role as a biomarker or therapeutic target in synovial sarcoma and a candidate gene in autism spectrum disorder and periarthritis; however, it is not the focus of any approved pharmacologic interventions to date.

Other names

PDZD4PDZ domain containing 4KIAA1444LU1PDZK4PDZRN4LLNX5PDZ domain-containing RING finger protein 4-like protein