Protein Name NPHS1 adhesion molecule, nephrin
Organism Homo sapiens
Gene ID 4868
Gene Symbol

NPHS1

UniProt O60500 (NPHN_HUMAN)
Relationships Total Number of functionally related compound(s) : 550
Total Number of Articles : 573
Description

NPHS1 adhesion molecule, nephrin

Gene Summary

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.[provided by RefSeq, Oct 2009]

synonyms
  • nephrin
  • NPHS1, nephrin
  • nephrosis 1, congenital, Finnish type (nephrin)
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Properties