Podocin

From Wikipedia, the free encyclopedia

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]

Quick facts nephrosis 2, idiopathic, steroid-resistant (podocin), Identifiers ...
nephrosis 2, idiopathic, steroid-resistant (podocin)
Identifiers
SymbolNPHS2
NCBI gene7827
HGNC13394
OMIM604766
RefSeqNM_014625
UniProtQ9NP85
Other data
LocusChr. 1 q25-q31
Search for
StructuresSwiss-model
DomainsInterPro
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Gene expression pattern of the NPHS2 gene.
Gene expression pattern of the NPHS2 gene.

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 foot processes (pedicels) where it oligomerizes in lipid rafts together with nephrin to form the filtration slits.[4][5]

References

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