Podocin

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

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. Mutations in the podocin gene NPHS2 can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD). Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood.