Home > Product > Antibody > Rabbit Anti-phospho-Nephrin (Tyr1176 + Tyr1193) antibody
Nephrin (phospho Y1176 + Y1193); p-Nephrin (phospho Y1176 + Y1193); CNF; Nephrin; Nephrosis 1 congenital Finnish type; Nephrosis 1, congenital, Finnish type (nephrin); NPHN; NPHN_HUMAN; NPHS 1; Nphs1; Renal glomerulus specific cell adhesion receptor; Ren
Cat:
SL19200R
Species Reactivity:
Human,(predicted: Mouse,)
Immunogen:
KLH conjugated synthesised phosphopeptide derived from human Nephrin around the phosphorylation site of Tyr1176 + Tyr1193:L(p-Y)DE
Format:
Liquid
Storage instructions:
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
ELISA=1:5000-10000not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
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Unit:
Price: $
Product PDFs
Datasheet:


This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]

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.

Subcellular Location:
Cell membrane. Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.

Tissue Specificity:
Specifically expressed in podocytes of kidney glomeruli.

Post-translational modifications:
Phosphorylated on tyrosine residues.

DISEASE:
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.

Similarity:
Belongs to the immunoglobulin superfamily.
Contains 1 fibronectin type-III domain.
Contains 8 Ig-like C2-type (immunoglobulin-like) domains.

SWISS:
O60500

Gene ID:
4868

Database links:

Entrez Gene: 4868 Human

Entrez Gene: 54631 Mouse

Omim: 602716 Human

SwissProt: O60500 Human

SwissProt: Q9QZS7 Mouse

Unigene: 122186 Human

Unigene: 437830 Mouse



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