The EPB41L5 gene encodes a structural constituent of the cytoskeleton that is believed to play a role in the tightness of cell junctions and the establishment of polarity in epithelial-derived tissues. While the EPB41L5 protein is yet to be fully characterized, it has been implicated in several processes during in-utero embryonic development, such as actomyosin structure organization, ectoderm, endoderm and axial mesoderm development, neural plate morphogenesis, epithelial to mesenchymal transition and left/right axis specification.