Description
NPHS2, also called Podocin (PDCN), is a protein which lines the podocytes and assists in maintaining the barrier at the glomerular basement membrane. NPHS2 is a causative gene for Familial idiopathic nephrotic syndromes, which represents a heterogeneous group of kidney disorders, and include autosomal recessive steroid-resistant nephrotic syndrome, which is characterized by early childhood onset of proteinuria, rapid progression to end-stage renal disease and focal segmental glomerulosclerosis. By positional cloning, it was mapped to 1q25-31. It is almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli, and encodes a new integral membrane protein, podocin, belonging to the stomatin protein family. Boute et al.(2000) found ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier