Entrez gene ID | | 7827 |
Official gene symbol | | NPHS2 |
Full name | | nephrosis 2, idiopathic, steroid-resistant (podocin) |
Aliases | | ,PDCN,SRN1, |
Gene summary | | This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q25.2 |
Gene position | | 179545084 - 179519674 Map Viewer |
Gene orientation | | minus |
Gene size | | 25411 bp |
Gene sequence |
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OMIM ID | | 604766 |
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