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.
Immunogen Information
Immunogen
Synthetic peptide of human NPHS1
Swissprot
O60500
Synonyms
CNFNephrinNephrosis 1 congenital Finnish typeNephrosis 1congenitalFinnish type (nephrin)NPHNNPHNNPHS 1Nphs1Renal glomerulus specific cell adhesion receptorRenal glomerulus-specific cell adhesion receptor
Calculated MW
135 kDa
Gene Accession
NP_004637
Applications
Reactivity
Human,Mouse,Rat
Tested Applications
WB,IHC,ELISA
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000, IHC 1:25-1:100
Concentration
0.5 mg/mL
Storage Buffer
PBS with 0.05% sodium azide and 50% glycerol, PH7.4