免疫原
Synthesized peptide derived from part region of human protein
特异性
PODO Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014],
功能
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.,
