Aliases for NPHS1 Gene
External Ids for NPHS1 Gene
Previous GeneCards Identifiers for NPHS1 Gene
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]
GeneCards Summary for NPHS1 Gene
NPHS1 (Nephrosis 1, Congenital, Finnish Type (Nephrin)) is a Protein Coding gene. Diseases associated with NPHS1 include congenital nephrotic syndrome finnish type and nephrotic syndrome, type 1. Among its related pathways are Cell junction organization and Nephrin/Neph1 signaling in the kidney podocyte. GO annotations related to this gene include protein domain specific binding and myosin binding. An important paralog of this gene is KIRREL3.
UniProtKB/Swiss-Prot for NPHS1 Gene
Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).