Podocin
| nephrosis 2, idiopathic, steroid-resistant (podocin) | |
|---|---|
| Identifiers | |
| Symbol | NPHS2 |
| Entrez | 7827 |
| HUGO | 13394 |
| OMIM | 604766 |
| RefSeq | NM_014625 |
| UniProt | Q9NP85 |
| Other data | |
| Locus | Chr. 1 q25-q31 |
Podocin is a protein component of the filtration slits of podocytes. Glomerular capillary endothelial cells, the glomerular basement membrane and the filtration slits function as the filtration barrier of the kidney glomerulus.[1] Mutations in the podocin gene NPHS2 can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD).[2]
References
- ↑ Jarad, G.; Miner, J. H. (2009). "Update on the glomerular filtration barrier". Current opinion in nephrology and hypertension 18 (3): 226–232. doi:10.1097/mnh.0b013e3283296044. PMC 2895306. PMID 19374010.
- ↑ Mollet, G.; Ratelade, J.; Boyer, O.; Muda, A. O.; Morisset, L.; Lavin, T. A.; Kitzis, D.; Dallman, M. J.; Bugeon, L.; Hubner, N.; Gubler, M. -C.; Antignac, C.; Esquivel, E. L. (2009). "Podocin Inactivation in Mature Kidneys Causes Focal Segmental Glomerulosclerosis and Nephrotic Syndrome". Journal of the American Society of Nephrology 20 (10): 2181–2189. doi:10.1681/ASN.2009040379. PMC 2754108. PMID 19713307.
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