NPHS2 encodes podocin, a protein exclusively expressed in podocytes in developing and mature glomeruli. Podocin is a member of the stomatin protein family with a short N terminal domain, a membrane-anchoring region, and a cytosolic C-terminal domain. Podocin accumulates in an oligomeric form in lipid rafts of the slit diaphragm. The C-terminal domain of Podocin binds to the cytoplasmic domain of nephrin thus it may function as a scaffolding protein connecting nephrin with the actin cytoskeleton. Beside nephrin it was shown that podocin also interacts with several other SD proteins, hence forming functional microdomains
Walz, G, Schilling, B, Benzing, T, Kottgen, M, Huber, TB
Walz, G, Sernetz, L, Saleem, MA, Simons, M, Hartleben, B, Benzing, T, Gundlach, E, Schmidts, M, Huber, TB
Faul, C, Saleem, MA, Kriz, W, Shaw, AS, Simons, M, Schwarz, K, Holzman, LB, Mundel, P, Reiser, J
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