Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.
Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.
Involvement in disease
Defects in NPHS2 are the cause of nephrotic syndrome type 2 (NPHS2) [MIM:600995]. It is a renal disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder.
IHC image of NPHS2 staining in THuman normal kidney formalin fixed paraffin embedded tissue section, performed on a Leica Bond™ system using the standard protocol F. The section was pre-treated using heat mediated antigen retrieval with sodium citrate buffer (pH6, epitope retrieval solution 1) for 20 mins. The section was then incubated with ab93650, 5µg/ml, for 15 mins at room temperature and detected using an HRP conjugated compact polymer system. DAB was used as the chromogen. The section was then counterstained with haematoxylin and mounted with DPX.
For other IHC staining systems (automated and non-automated) customers should optimize variable parameters such as antigen retrieval conditions, primary antibody concentration and antibody incubation times.
Western blot - Anti-NPHS2 antibody (ab93650)
Anti-NPHS2 antibody (ab93650) at 1/200 dilution + Fetal kidney lysate
Wei MG et al. JiaWeiDangGui Decoction Ameliorates Proteinuria and Kidney Injury in Adriamycin-Induced Rat by Blockade of TGF-ß/Smad Signaling. Evid Based Complement Alternat Med2016:5031890 (2016).
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