Periaxin (PRX)

Periaxin is a scaffolding protein encoded by the PRX gene, primarily expressed in Schwann cells of the peripheral nervous system and also in eye lens fiber cells. It forms part of the dystroglycan–dystrophin-related protein complex, providing a structural link between the Schwann cell cytoskeleton and the extracellular matrix, crucial for maintaining the stability, thickness, and long-term integrity of the myelin sheath around axons. Periaxin has two main isoforms (L-periaxin and S-periaxin) generated by alternative mRNA splicing; L-periaxin is essential for the maintenance of myelin, whereas S-periaxin has more general cytoplasmic and nuclear localization within Schwann cells. Genetic defects in the PRX gene are associated with demyelinating neuropathies, namely Charcot–Marie–Tooth disease type 4F (CMT4F) and Dejerine–Sottas disease, leading to progressive peripheral nerve dysfunction. Recent studies also indicate a role for periaxin in endothelial cell barrier function in humans, suggesting possible roles beyond the peripheral nervous system. At present, periaxin is not a direct drug target.

Other names

PeriaxinPRXKIAA1620CMT4F