[1] Mutations in the podocin gene NPHS2 can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD).
[2] Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood.
[3] Podocin is a membrane protein of the band-7-stomatin family, consisting of 383 amino acids.
It has a transmembrane domain forming a hairpin structure, with two cytoplasmic ends at the N- and C-terminus, the latter of which interacts with the cytosolic tail of nephrin, with CD2AP serving as an adaptor.
[4] Podocin is localized on the membranes of podocyte foot processes (pedicels) where it oligomerizes in lipid rafts together with nephrin to form the filtration slits.