Anti-NPHS2 antibody [EPR13819]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The NPHS2 gene encodes the protein known as podocin which plays an important role in the renal system. Podocin is a membrane protein with a molecular mass of approximately 42 kDa. It is largely expressed in the kidney specifically in the podocyte foot processes of the glomerulus. The protein is responsible for the proper functioning of the slit diaphragm a critical component in the kidney's filtration barrier. NPHS2 by maintaining the structural integrity of these cells prevents proteins from spilling into the urine.

Biological function summary

The function of the NPHS2 gene product is significant in the maintenance of the glomerular filtration barrier. Podocin is a part of the slit diaphragm complex interacting closely with other proteins like nephrin. This interaction is required for the formation and stabilization of the slit diaphragm which filters blood plasma in the glomerulus. The precision in its location and function ensures the selective permeability of the filtration barrier.

Pathways

NPHS2 is heavily involved in pathways that regulate kidney function and filtration processes. It is an important component of the slit diaphragm complex pathway. Podocin’s interaction with proteins like nephrin and CD2AP integrates it into signaling pathways important for cytoskeletal dynamics and cell adhesion in podocytes. These interactions play an essential role in facilitating the response of podocytes to mechanical stress and in maintaining the structure of the glomerular filtration barrier.

Associated diseases and disorders

NPHS2 mutations link directly to steroid-resistant nephrotic syndrome (SRNS). This condition leads to proteinuria and progressive kidney failure. Podocin dysfunction disrupts the integrity of the renal filtration barrier causing this disease. The protein nephrin is another component in SRNS pathophysiology as both are fundamental to maintaining the structure and function of the slit diaphragm. Understanding the relationship between NPHS2 and these proteins can aid in developing targeted therapies for SRNS and related nephropathies.