The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Additional notesProtein concentration is above or equal to 0.05mg/ml. This protein is best used within three months from the date of receipt.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.3% Glutathione, 0.79% Tris HCl
Nephrosis 1 congenital Finnish type
Nephrosis 1, congenital, Finnish type (nephrin)
Renal glomerulus specific cell adhesion receptor
Renal glomerulus-specific cell adhesion receptor
FunctionSeems 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.
Tissue specificitySpecifically expressed in podocytes of kidney glomeruli.
Involvement in diseaseDefects in NPHS1 are the cause of nephrotic syndrome type 1 (NPHS1) [MIM:256300]; also known as Finnish congenital nephrosis (CNF). A renal disease characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure.
Sequence similaritiesBelongs to the immunoglobulin superfamily. Contains 1 fibronectin type-III domain. Contains 8 Ig-like C2-type (immunoglobulin-like) domains.
Developmental stageIn 23-week-old embryo found in epithelial podocytes of the periphery of mature and developing glomeruli.
Post-translational modificationsPhosphorylated on tyrosine residues.
Cellular localizationCell membrane. Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.