NPHS1

NPHS1, nephrin

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Finnish congenital nephrotic syndrome

From UniProt:

Nephrotic syndrome 1 (NPHS1): A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. [MIM:256300]

Cytogenetic Location: 19q13.1, which is the long (q) arm of chromosome 19 at position 13.1

Molecular Location: base pairs 35,825,372 to 35,851,993 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.1, which is the long (q) arm of chromosome 19 at position 13.1
  • CNF
  • nephrin
  • NPHN