| NPHS1 |
| LOCUS ID | 4868 | ||||||||||
| GENE_SYMBOL | NPHS1 | ||||||||||
| GENE NAME | nephrosis 1, congeni | ||||||||||
| SYNONYMNS | CNF, NPHN, nephrin | ||||||||||
| CHROMOSOME | 19 | ||||||||||
| HOMOLOGENE ID | 20974 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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 ne |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. 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 condition | 12224046 |