Nephrin is a transmembrane protein primarily located in specialized kidney cells called podocytes
Nephrin has a large extracellular portion, a transmembrane region, and an intracellular domain
It forms an essential component of the slit diaphragm, which is a specialized junction between podocyte foot processes.
Acts as a molecular sieve that helps filter blood while preventing the loss of important proteins, and maintain the structural integrity of the filtration barrier.
Nephrin is crucial for maintaining the integrity of the glomerular filtration barrier, and its dysfunction or absence can lead to proteinuria and nephrotic syndrome.
The NPHS1 gene encodes for nephrin.
Mutations in the NPHS1 gene causes Congenital Nephrotic Syndrome of the Finnish Type (CNF) with massive proteinuria and typically manifests shortly after birth.
Nephrin antibodies are autoantibodies that target nephrin, a key protein located at the slit diaphragm of glomerular podocytes.
Nephrin autoantibodies are found in patients with minimal change disease (MCD) and idiopathic nephrotic syndrome, suggesting an autoimmune etiology for these conditions.
such utoantibodies can disrupt the normal function of nephrin, leading to podocyte injury and proteinuria.