|Other Names||Nephrin, Renal glomerulus-specific cell adhesion receptor, NPHS1, NPHN|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).|
|Cellular Location||Cell membrane; Single-pass type I membrane protein. Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane|
|Tissue Location||Specifically expressed in podocytes of kidney glomeruli|
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This gene encodes a member of the immunoglobulin family ofcell adhesion molecules that functions in the glomerular filtrationbarrier in the kidney. The gene is primarily expressed in renaltissues, and the protein is a type-1 transmembrane protein found atthe slit diaphragm of glomerular podocytes. The slit diaphragm isthought to function as an ultrafilter to exclude albumin and otherplasma macromolecules in the formation of urine. Mutations in thisgene result in Finnish-type congenital nephrosis 1, characterizedby severe proteinuria and loss of the slit diaphragm and footprocesses.
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Wu, F., et al. J. Am. Soc. Nephrol. 21(9):1456-1467(2010)Tossidou, I., et al. J. Biol. Chem. 285(33):25285-25295(2010)Machuca, E., et al. J. Am. Soc. Nephrol. 21(7):1209-1217(2010)Aya, K., et al. Kidney Int. 57(2):401-404(2000)
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