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NPHS1 : ウィキペディア英語版
Nephrin

Nephrin is a protein necessary for the proper functioning of the renal filtration barrier. The renal filtration barrier consists of fenestrated endothelial cells, the glomerular basement membrane, and the podocytes of epithelial cells. Nephrin is a transmembrane protein that is a structural component of the slit diaphragm.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4868 )〕 They are present on the tips of the podocytes and maintain the normal relationship between the basment membrane and the podocytes of the epithelial cells.
A defect in the gene for nephrin, NPHS1, is associated with congenital nephrotic syndrome of the Finnish type and causes massive amounts of protein to be leaked into the urine, or proteinuria. Nephrin is also required for cardiovascular development.
== Interactions ==
Nephrin has been shown to interact with:
* CASK,〔
* CD2AP,
* CDH3〔 and
* CTNND1,〔
* FYN,
* KIRREL, and
* NPHS2.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Nephrin」の詳細全文を読む



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