MilliporeSigma™ Nephrin, Mouse, Unlabeled, Clone: 3B6.1,

Description

• Nephrin (UniProt O60500; also known as Renal glomerulus-specific cell adhesion receptor) is encoded by the NPHS1 (also known as NPHN) gene (Gene ID 4868) in human
• The transmembrane protein nephrin is an essential component of the podocyte slit diaphragm, the main functional unit of the glomerulus
• The renal filtration barrier consists of fenestrated endothelial cells, the glomerular basement membrane (GBM), and the podocytes of epithelial cells
• The interdigitating podocyte foot processes are bridged by a 40nm wide extracellular structure known as the slit diaphragm
• Together with the capillary endothelium and GBM, podocytes comprise the glomerular filtration barrier
• The GBM functions as a coarse prefilter for large plasma proteins, whereas the slit diaphragm serves as an isoporous ultrafilter with pores smaller than albumin
• Nephrin gene mutations are linked to the autosomal recessive disorder congenital nephrotic syndrome of the Finnish type (NPHS1) characterized by massive proteinuria already in utero and nephrosis soon after birth
• Both nephrin and the slit diaphragm are reported to be absent in NPHS1 cases
• Nephrin is produced with a signal peptide (a.a
• 1-22), the removal of which yields the mature protein with a large extracellular region (a.a
• 23-1055), followed by a transmembrane segment (a.a
• 1056-1076) and a cytoplasmic tail (a.a
• 1077-1241)
• The extracellular region contains eight C-type Ig-like domains (a.a
• 27-939), and a Fibronectin type III domain (a.a
• 943-1038), while the cytoplasmic tail contains the NPHS2-binding region (a.a
• 1160-1241).