Podocin
Function
Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.
Involvement in disease
Nephrotic syndrome 2
NPHS2
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. 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Isoform 2
Glycosylated.
Sequence Similarities
Belongs to the band 7/mec-2 family.
Tissue Specificity
Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.
Cellular localization
- Isoform 1
- Cell membrane
- Peripheral membrane protein
- Isoform 2
- Endoplasmic reticulum
Alternative names
Podocin, NPHS2