The pathological conditions of SRN1 correlate well with mutations at the NPHS2 gene, where expression of a protein known as Podocin occurs. Abnormal or inefficient signaling through Podocin protein-dependent networks contributes to the development of podocyte dysfunction and proteinuria. The human NPHS2 gene maps to chromosome 1q25-q31 and encodes a 383 amino acid protein. Podocin is an integral membrane protein that appears to fold into a hairpin-like structure with intracellular amino- and carboxy-termini. Transmembrane and cytoplasmic portions of Podocin share homology to the corresponding regions of the stomatin family proteins. Expression of high-order oligomers of Podocin in glomerular podocytes may reflect a scaffolding function that influences proper function of the glomerular filtration barrier, which is necessary for renal stability.
nephrosis 2 idiopathic steroid-resistant; nephrosis 2, idiopathic, steroid-resistant (podocin); NPHS2 podocin; PDCN; Podocin; SRN1