PTPRU Antibody – Mouse Monoclonal

This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]

PTPRO: Possesses tyrosine phosphatase activity. Plays a role in regulating the glomerular pressure/filtration rate relationship through an effect on podocyte structure and function. Defects in PTPRO are the cause of nephrotic syndrome type 6 (NPHS6). NPHS6 is a renal disease characterized clinically by proteinuria, 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. Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Receptor protein phosphatase, tyrosine; EC 3.1.3.48; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 12p13.3-p13.2|12p13-p12

Cellular Component: neuron projection; growth cone; integral to plasma membrane; lamellipodium; axon; apical plasma membrane; integral to membrane; dendritic spine; plasma membrane; lateral plasma membrane

Molecular Function: Wnt-protein binding; protein binding; protein homodimerization activity; phosphoric monoester hydrolase activity; transmembrane receptor protein tyrosine phosphatase activity; protein tyrosine phosphatase activity

Biological Process: lamellipodium biogenesis; monocyte chemotaxis; axon guidance; regulation of glomerular filtration; negative regulation of glomerular filtration; cell morphogenesis; protein amino acid dephosphorylation; glomerulus development

Disease: Nephrotic Syndrome, Type 6