Nephrin: Products

Nephrin, also known as renal glomerulus-specific cell adhesion receptor and nephrosis 1 (NPHS1) is a 185 - 200 kDa type I transmembrane protein belonging to the immunoglobulin (Ig) superfamily. It is expressed on podocytes and is an essential component of the interpodocyte-spanning slit diaphragm complex. Nephrin forms cis-hetero-oligomeric complexes with Neph1, followed by trans-homophilic interaction with Nephrin on opposing cells. Mutations in the Nephrin gene is the pathogenic cause of congenital nephrotic syndrome. Mature human Nephrin contains a 1033 aa extracellular region and a 165 aa cytoplasmic tail. One potential soluble splice form of nephrin is known where aas 1056 - 1095 are deleted, eliminating the transmembrane region. Over aa 23 - 1029, human Nephrin shares 84% and 89% aa identity with mouse and canine Nephrin, respectively.