Nephrin
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| nephrosis 1, congenital, Finnish type (nephrin)
| |
| Identifiers | |
| Symbol | NPHS1 |
| Entrez | 4868 |
| HUGO | 7908 |
| 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 diaphragm.
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.
See also
External links
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
