PTPRO
Function
Possesses tyrosine phosphatase activity. Plays a role in regulating the glomerular pressure/filtration rate relationship through an effect on podocyte structure and function (By similarity).
Involvement in disease
Nephrotic syndrome 6
NPHS6
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. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.
Tissue Specificity
Glomerulus of kidney. Also detected in brain, lung and placenta.
Cellular localization
- Membrane
- Single-pass type I membrane protein
Alternative names
GLEPP1, PTPU2, PTPRO, Receptor-type tyrosine-protein phosphatase O, R-PTP-O, Glomerular epithelial protein 1, Protein tyrosine phosphatase U2, PTP-U2, PTPase U2