Biology:Podocin
| 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
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 serving as an adaptor. [4]
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.[4]
References
- ↑ "Update on the glomerular filtration barrier". Current Opinion in Nephrology and Hypertension 18 (3): 226–32. May 2009. doi:10.1097/mnh.0b013e3283296044. PMID 19374010.
- ↑ "Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome". Journal of the American Society of Nephrology 20 (10): 2181–9. October 2009. doi:10.1681/ASN.2009040379. PMID 19713307.
- ↑ Avner, Ellis D; Harmon, William E; Niaudet, Patrick; Yoshikawa, Norishige; Emma, Francesco; Goldstein, Stuart L (2016). Pediatric Nephrology. Springer. ISBN 9783662435960. OCLC 1050008865.
- ↑ 4.0 4.1 "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. March 2014. doi:10.1007/s12539-014-0190-4. PMID 24464702.
 |  |
