Nephrin
From Wikipedia, the free encyclopedia
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nephrosis 1, congenital, Finnish type (nephrin)
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| Identifiers | |
| Symbol | NPHS1 |
| HUGO | 7908 |
| Entrez | 4868 |
| OMIM | 602716 |
| RefSeq | NM_004646 |
| UniProt | O60500 |
| Other data | |
| Locus | Chr. 19 q12-q13.1 |
Nephrin is a protein necessary for the proper functioning of the renal filtration barrier. The renal filtration barrier consists of fenestrated endothelial cells, the glomerular basement membrane, and the podocytes of epithelial cells. Nephrin is a transmembrane protein involved with the slit diagram.
A defect in the gene for nephrin is associated with congenital nephrotic syndrome and causes massive amounts of protein to be leaked into the urine, or proteinuria.
[edit] See also
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