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NPHS1, NPHS1 adhesion molecule, nephrin

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NPHS1, NPHS1 adhesion molecule, nephrin

  • 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]

  • Gene Synonyms (CNF, NPHN, nephrin, nephrin, NPHS1, nephrin, nephrosis 1, congenital, Finnish type (nephrin), renal glomerulus-specific cell adhesion receptor, truncated NPHS1,)
  • NCBI Gene ID: 4868
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>O60500
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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