Podocin (NPHS2) Human Recombinant Protein

NPHS2: Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton. Defects in NPHS2 are the cause of nephrotic syndrome type 2 (NPHS2). It is a renal disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder. Belongs to the band 7/mec-2 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 1q25.2

Cellular Component: protein complex; endoplasmic reticulum; integral to plasma membrane; plasma membrane; intercellular junction; lipid raft

Molecular Function: protein binding

Biological Process: actin cytoskeleton reorganization; excretion

Disease: Nephrotic Syndrome, Type 2