Add 0.1 M Acetate buffer pH4 to prepare a working stock solution of approximately 0.5 mg/mL and let the lyophilized pellet dissolve completely. For conversion into higher pH value, we recommend intensive dilution by relevant buffer to a concentration of 10 µg/mL. In higher concentrations the solubility of this antigen is limited.
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.