| Entrez gene ID | | 4868 |
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| Official gene symbol | | NPHS1 |
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| Full name | | nephrosis 1, congenital, Finnish type (nephrin) |
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| Aliases | | ,CNF,NPHN,nephrin, |
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| 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. |
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| Location | | Chromosome: 19 Locus: 19q13.1 |
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| Gene position | | 36342895 - 36316274 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 26622 bp |
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| Gene sequence |
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| OMIM ID | | 602716 |
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