Podocin/NPHS2 Products

Description

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. [provided by RefSeq]

Bioinformatics

Uniprot	AAH29141 Human AAH29141.1 Human NP_055440 Human Q9NP85 Human
Product By Gene ID	7827
Alternate Names	nephrosis 2, idiopathic, steroid-resistant (podocin) PDCNSRN1podocin