disease:Defects in NPHS2 are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]. SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. Focal segmental glomerulosclerosis is present at later stages.,function:Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.,similarity:Belongs to the band 7/mec-2 family.,subunit:Interacts with nephrin/NPHS1 and KIRREL. Interacts directly with CD2AP. Interacts with DDN.,tissue specificity:Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.,
[Isoform 1]: Cell membrane ; Peripheral membrane protein .; [Isoform 2]: Endoplasmic reticulum .
Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.
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