Species Human Entrez 4868 | Human Mouse Ensembl ENSG00000161270 | |
Aliases NPHS1, CNF, NPHN, nephrin, NPHS1 nephrin External IDs OMIM: 602716 MGI: 1859637 HomoloGene: 20974 GeneCards: NPHS1 | ||
Nephrin is a protein necessary for the proper functioning of the renal filtration barrier. The renal filtration barrier consists of fenestrated endothelial cells, the glomerular basement membrane, and the podocytes of epithelial cells. Nephrin is a transmembrane protein that is a structural component of the slit diaphragm. They are present on the tips of the podocytes and maintain the normal relationship between the basement membrane and the podocytes of the epithelial cells.
A defect in the gene for nephrin, NPHS1, is associated with congenital nephrotic syndrome of the Finnish type and causes massive amounts of protein to be leaked into the urine, or proteinuria. Nephrin is also required for cardiovascular development.
Interactions
Nephrin has been shown to interact with: