nephrosis 2, idiopathic, steroid-resistant (podocin) | |||||||
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Identifiers | |||||||
Symbol | NPHS2 | ||||||
NCBI gene | 7827 | ||||||
HGNC | 13394 | ||||||
OMIM | 604766 | ||||||
RefSeq | NM_014625 | ||||||
UniProt | Q9NP85 | ||||||
Other data | |||||||
Locus | Chr. 1 q25-q31 | ||||||
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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]
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]
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]