| nephrosis 2, idiopathic, steroid-resistant (podocin) | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | NPHS2 | ||||||
| NCBI gene | 7827 | ||||||
| HGNC | 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] Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood.[3]
Structure
editPodocin 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 serving as an adaptor. [4]
Function
editPodocin is localized on the membranes of podocyte foot processes (pedicels) where it oligomerizes in lipid rafts together with nephrin to form the filtration slits.[4][5]
References
edit- ^ Jarad G, Miner JH (May 2009). "Update on the glomerular filtration barrier". Current Opinion in Nephrology and Hypertension. 18 (3): 226–32. doi:10.1097/mnh.0b013e3283296044. PMC 2895306. PMID 19374010.
- ^ Mollet G, Ratelade J, Boyer O, Muda AO, Morisset L, Lavin TA, Kitzis D, Dallman MJ, Bugeon L, Hubner N, Gubler MC, Antignac C, Esquivel EL (October 2009). "Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome". Journal of the American Society of Nephrology. 20 (10): 2181–9. doi:10.1681/ASN.2009040379. PMC 2754108. PMID 19713307.
- ^ Avner ED, Harmon WE, Niaudet P, Yoshikawa N, Emma F, Goldstein SL (2016). Pediatric Nephrology. Springer. ISBN 9783662435960. OCLC 1050008865.
- ^ a b Tabassum A, Rajeshwari T, Soni N, Raju DS, Yadav M, Nayarisseri A, Jahan P (March 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): 32–9. doi:10.1007/s12539-014-0190-4. PMID 24464702. S2CID 17163784.
- ^ Saleem MA, Ni L, Witherden I, Tryggvason K, Ruotsalainen V, Mundel P, Mathieson PW (October 2002). "Co-localization of nephrin, podocin, and the actin cytoskeleton: evidence for a role in podocyte foot process formation". Am J Pathol. 161 (4): 1459–66. doi:10.1016/S0002-9440(10)64421-5. PMC 1867300. PMID 12368218.
