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]
Structure
Podocin is a membrane protein of the band-7-stomatin family, consisting of 383 amino acids. It has a transmembrane domain forming a hairpin structure, with two cytoplasmic ends at the N- and C-terminus, the latter of which interacts with the cytosolic tail of nephrin, with CD2AP srving as an adapter. [3]
Function
Podocin is localized on the membranes of podocyte pedicels (foot-like long processes), where it oligomerizes in lipid rafts together with nephrin to form the filtration slits.[3]
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.
- 1 2 Tabassum, A.; Rajeshwari, T.; Soni, N.; Raju, D. S.; Yadav, M.; Nayarisseri, A.; Jahan, P. (2014). "Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach". Interdisciplinary Sciences, Computational Life Sciences. 6 (1): 32–29. doi:10.1007/s12539-014-0190-4. PMID 24464702.