基因名：
NPHS1
产品别名：
CNF； NPHN； nephrin； NPHS1； NPHS1 adhesion molecule, nephrin； NPHS1 adhesion molecule, nephrin； nephrin； NPHS1, nephrin； nephrosis 1, congenital, Finnish type (nephrin)； renal glomerulus-specific cell adhesion receptor； 磷酸化肾小球细胞粘附分子受体； 肾小球细胞粘附分子受体； 肾小球细胞粘附分子受体蛋白； 肾足蛋白(NPHN)；
背景信息：
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
