Analysis of podocin expression in patients with NPHS2 mutations offers an invaluable manner for defining anomalous dislocation in vivo suggesting functional anomalies.

Podocin is a 383 amino acid protein localizing to the lipid rafts along with other SD proteins [7,16,17]. Podocin shares 44% homology and several structural similarities with stomatin family proteins due to the presence of a highly conserved Prohibitin (PHB) domain [5,18].

Its product, podocin, is a new member of the stomatin family, which consists of hairpin-like integral membrane proteins with intracellular NH(2)- and COOH-termini. Podocin is expressed in glomerular podocytes, but its subcellular distribution and …

Podocin is a member of the prohibitin homology (PHB)-domain family, a family of membrane proteins that associate preferentially with cholesterol-rich lipid rafts in which they play specialized roles. From: Seldin and Giebisch's The Kidney (Fifth Edition), 2013

2016年8月30日 · At the slit diaphragm, podocin, short transient receptor potential channel 6 (TRPC6) and CD2-associated protein (CD2AP) provide structural and functional support for the filtration barrier and ...

The NPHS2 gene provides instructions for making a protein called podocin. Podocin is primarily found in the kidneys, which are organs that filter waste products from the blood and remove them in urine.

2011年4月15日 · Podocin mRNA expression and sequence analysis reveals the existence of a podocin isoform and proves singular podocin extrarenal expression in human and murine testis.

Podocin is a critical component of the glomerular slit diaphragm, and genetic mutations lead to both familial and sporadic forms of steroid-resistant nephrotic syndrome. In mice, constitutive absence of podocin leads to rapidly progressive renal disease characterized by mesangiolysis and/or mesangial sclerosis and nephrotic syndrome.

2024年12月25日 · NPHS2 (NPHS2 Stomatin Family Member, Podocin) is a Protein Coding gene. Diseases associated with NPHS2 include Nephrotic Syndrome, Type 2 and Nephrotic Syndrome . Among its related pathways are Cell junction organization and Nephrin/Neph1 signaling in the kidney podocyte .

Podocin is a key membrane scaffolding protein of the kidney podocyte essential for intact glomerular filtration. Mutations in NPHS2, the podocin-encoding gene, represent the commonest form of inherited nephrotic syndrome (NS), with early, intractable kidney failure.