Podocin (PDCN)

Podocin is a protein which lines the podocytes and assists in maintaining the barrier at the glomerular basement membrane.NPHS2 encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN).

SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant has been described but its full length sequence has not been determined.