| Name | nephrosis 1, congenital, Finnish type (nephrin) |
| Symbol | NPHS1 |
| Aliases | CNF; NPHN |
| Gene Product | |
| Category | |
| UniGene |
Hs.122186
|
| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Gene Ontology | |
| Expression | | EST (6 ESTs, 5 libraries) |
| Tissue | Breadth ? |
CPM ? |
| kidney |  | | | lung |  | | | uncharacterized tissue | | | | uterus | | |
|
| SAGE (535154 tags, 8 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain | | | | colon | | | | eye | | | | kidney | | | | nervous | | | | ovary | | |
|
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| Evidence | Mutation in System Syndrom with Kidney Involvment
- Patrakka J, Martin P, Salonen R, Kestila M, Ruotsalainen V, Mannikko M, Ryynanen M, Rapola J, Holmberg C, Tryggvason K, Jalanko H Proteinuria and prenatal diagnosis of congenital nephrosis in fetalcarriers of nephrin gene mutations. Lancet 2002 May 4;359(9317):1575-7.
- Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephroticsyndrome advocate a functional inter-relationship in glomerularfiltration. Hum Mol Genet 2002 Feb 15;11(4):379-88.
Other key publications related to this gene
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