DISEASES

Disease-gene associations mined from literature

Literature associating NPHS1 and familial nephrotic syndrome

NPHS1 [ENSP00000368190]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM