基因注释:NPHS2
官方信息
官方名称:NPHS2 stomatin family member, podocin
功能摘要: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].
作为靶基因的剪接因子
- Srsf7 综合评分: 0.100 · 证据 1 条
关联疾病
该基因暂无关联疾病记录