Gene Symbol | NPHS2 |
Entrez Gene ID | 7827 |
Full Name | NPHS2, podocin |
Synonyms | PDCN,SRN1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. |
Disorder MIM: | |
Disorder Html: | Nephrotic syndrome, type 2, 600995 (3) |