Podocin
From Infogalactic: the planetary knowledge core
| nephrosis 2, idiopathic, steroid-resistant (podocin) | |
|---|---|
| Identifiers | |
| Symbol | NPHS2 |
| Entrez | 7827 |
| HUGO | 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]
References
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