Podocin
From Wikipedia, the free encyclopedia
| 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]