NPHS1
LOCUS ID4868
GENE_SYMBOLNPHS1
GENE NAMEnephrosis 1, congenital, Finnish type (nephrin)
SYNONYMNSCNF, NPHN, nephrin
CHROMOSOME19
HOMOLOGENE ID20974
microRNAsNANA
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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Human studies in both type 1 and type 2 diabetes suggest down-regulation of nephrin expression in the diabetic kidney and it has been postulated that these changes may play a role in the pathogenesis of diabetic nephropathy, specifically the development of proteinuria in this condition12224046