Podocin

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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[edit]

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[edit]

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[edit]

  1. ^ 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 2895306Freely accessible. PMID 19374010. 
  2. ^ 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 2754108Freely accessible. PMID 19713307. 
  3. ^ a b 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.