Rabbit anti-Human NPHS1 Polyclonal Antibody

Uniprot Id

O60500

Target Species

Human

Target Name

NPHS1

Target Full Name

Nephrin

Target 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.

Target Involvement

Nephrotic syndrome 1 (NPHS1)

Target Subcellular Location

Cell membrane; Single-pass type I membrane protein.

Target Protein Families

Immunoglobulin superfamily

Target Tissue Specificity

Specifically expressed in podocytes of kidney glomeruli.

Target Research Area

Cell Adhesion, Signal Transduction

Target Synonyms

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; Renal glomerulus-specific cell adhesion receptor

Target Background

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.