Nephrin ist ein Gen, das durch das Symbol NPHS1 kodiert wird. Im Allgemeinen auch bezeichnet als: Renal glomerulus-specific cell adhesion receptor; NPHS1; NPHN. Nephrin hat eine Masse von 134.74kDa, eine Aminosäurelänge von 1241, und ist an Nephrotic syndrome 1 beteiligt.
Wir bieten 12 antikörper gegen Nephrin, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA, ICC/IF, FC and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Gewebespezifität
Specifically expressed in podocytes of kidney glomeruli.
Rolle bei Krankheiten
Nephrotic syndrome 1: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as 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.
Sequenzähnlichkeiten
Belongs to the immunoglobulin superfamily.
Posttranslationale Modifikation
Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1.
Zellort
Cell membrane.
Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.
