The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
備考Protein 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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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
機能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.
組織特異性Specifically expressed in podocytes of kidney glomeruli.
関連疾患Defects 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.
配列類似性Belongs to the immunoglobulin superfamily. Contains 1 fibronectin type-III domain. Contains 8 Ig-like C2-type (immunoglobulin-like) domains.
発生段階In 23-week-old embryo found in epithelial podocytes of the periphery of mature and developing glomeruli.
翻訳後修飾Phosphorylated on tyrosine residues.
細胞内局在Cell membrane. Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.