Description

The NPHS2 gene encodes podocin, a protein that is expressed at the insertion of the slit diaphragm in the renal glomerulus. Podocytes are specialized epithelial cells covering the basement membrane of the renal glomerulus, and they mediate glomerular filtration through the slit diaphragm. Podocin is thus crucial in the establishment of the glomerular filtration barrier. Mutations in this gene cause steroid-resistant nephrotic syndrome (Roselli et al., 2004).

External Information

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