Podocin, encoded by the NPHS2 gene, is an approximately 50 kDa membrane protein that plays an important role in podocyte function in the kidney. Loss of Podocin function results in albuminuria, hypercholesterolemia, hypertension, and renal failure. Human Podocin consists of a 102 amino acid (aa) cytoplasmic domain, a 21 aa intramembrane segment, and a second 262 aa cytoplasmic domain. Alternative splicing generates a short isoform with a 68 aa deletion in the second cytoplasmic domain. Within aa 259-383 (the region common to both isoforms), human Podocin shares 90% aa sequence identity with mouse and rat Podocin. Podicin localizes to areas of cell-cell contact between podocytes in the renal glomerulus. It associates into oligomers and forms complexes with Nephrin, CAR, ZO-1, and the cation ion channel TRPC6. It contributes to podocyte function by regulating the activation of TRPC6 and Nephrin mediated signaling. Multiple polymorphisms in NPHS2 are associated with steroid-resistant nephrotic syndrome.

Codice: PDEH100819_500μg | Marca: Elabscience | Confezionamento: 500μg