Literature associating NPHS1 and familial nephrotic syndrome
Renal glomerulus-specific cell adhesion receptor; 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); C2-set domain containing
Synonyms: NPHS1, NPHS1p, hNPHS1, O60500, NPHN ...