NPHS2 : NPHS2 stomatin family member, podocin

Description

The NPHS2 gene provides instructions for making a protein called podocin, a key component of the podocyte, a specialized cell that plays a vital role in filtering waste products from the blood in the kidneys. Podocytes form a delicate barrier within the glomerulus, the filtering unit of the kidney. Any disruption in podocyte function, often due to NPHS2 gene mutations, can lead to serious kidney disorders. The NPHS2 gene is located on chromosome 1q25.1, spanning approximately 20 kilobases and encompassing 12 exons. Mutations in NPHS2 can lead to a variety of kidney diseases, impacting the glomerular filtration process and ultimately affecting kidney function.

Associated Diseases

• Steroid-resistant nephrotic syndrome (SRNS)
• Focal segmental glomerulosclerosis (FSGS)
• Finnish-type nephrosis
• Congenital nephrotic syndrome (CNS)
• Diffuse mesangial sclerosis (DMS)

Did you know?

The NPHS2 gene was identified in 1998, revolutionizing our understanding of podocyte biology and the underlying causes of certain kidney diseases.