Immunogen sequence: KTEAGSEEDR VRNEYEESQW TGERDTQSST VSTTEAEPYY RSLRDFSPQL PPTQEEVSYS RGFTGEDEDM AFPGHLYDEV ERTYPPSGAW GPLYDEVQMG PWDLHWPEDT YQDPRGIYDQ VAGDLDTLEP DSLPFELRGH LV; Positive Samples: Mouse brain, Rat brain; Cellular Location: Cell membrane, Single-pass type I membrane protein
Primary steroid resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end stage renal disease. Kidney podocytes and their slit diaphragms form the final barrier to urinary protein loss. Congenital nephrotic syndrome (CNS) is caused by mutations in NPHS1 (nephrin) or NPHS2. Nephrin, a recently identified protein is a member of a group of podocyte proteins that constitute major component of the slit diaphragm especially in the foot process. Nephrin, a cell adhesion molecule, may play a crucial role in maintaining the glomerular filtration barrier. Recent studies have suggested that mutations in the gene for Nephrin reportedly lead to congenital nephrosis. Three novel podocyte proteins, Podocin, Nephrin and alpha Actinin 4 have been identified in congenital and experimental models of proteinuria. The role of Nephrin in anti apoptotic activity in podocyte slit diaphragm is believed to be associated with vascular endothelial derived growth factors VEGF signaling. Nephrin seems to play a role in the development or function of the kidney glomerular filtration barrier and it may anchor the podocyte slit diaphragm to the actin cytoskeleton.
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Protein Aliases: Nephrin; nephrin 1; nephrosis 1 homolog, nephrin; Renal glomerulus-specific cell adhesion receptor
Gene Aliases: nephrin; NephrinB; Nphn; Nphs1
Molecular Function: cell junction protein