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.In Western blots, nephrin antibodies generated against the two terminal extracellular Ig domains of recombinant human nephrin recognized a 180-kDa protein in lysates of human glomeruli and a 150-kDa protein in transfected COS-7 cell lysates.
This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant has been described but its full length sequence has not been determined.
A synthesized peptide derived from human NPLOC4, corresponding to a region within the internal amino acids.
Nucleophosmin (NPM1,B23) is a putative ribosome assembly factor with a high affinity for peptides containing nuclear localization signals (NLSs). The transport of proteins across the nuclear envelope is a selective,multistep process involving several cytoplasmic factors. Proteins must be recognized as import substrates,dock at the nuclear pore complex and translocate across the nuclear envelope in an ATP-dependent fashion. Several cytosolic and nuclear proteins that are central to this process have been identified. The 38 kDa nuclear protein nucleophosmin is involved in ribosomal assembly and rRNA transport. It is an abundant protein that is highly phosphorylated by Cdc2 kinase during mitosis.
A synthesized peptide derived from human NPNT.
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