NPHS1 : NPHS1 adhesion molecule, nephrin

Description

The NPHS1 gene provides instructions for making a protein called nephrin. Nephrin is a crucial component of the slit diaphragm, a specialized structure found in the glomerulus, the filtering unit of the kidney. This structure acts as a selective barrier, allowing water and small molecules to pass through while preventing larger molecules and blood cells from entering the urine. Mutations in the NPHS1 gene can disrupt the formation and function of the slit diaphragm, leading to various kidney diseases.

Associated Diseases

• Congenital nephrotic syndrome (CNS) of the Finnish type
• Steroid-resistant nephrotic syndrome (SRNS)
• Focal segmental glomerulosclerosis (FSGS)
• Membranous nephropathy

Did you know?

Mutations in NPHS1 are particularly common in Finland, explaining why CNS of the Finnish type is more prevalent in that country.