Phosphotidylinositol Phosphatase PTPRQ (PTPRQ) ELISA Kit for Human

This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]

PTPRQ: Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5-bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; however, the relevance of such activity in vivo is unclear. Plays an important role in adipogenesis of mesenchymal stem cells (MSCs). Regulates the phosphorylation state of AKT1 by suppressing the phosphatidylinositol 3,4,5-trisphosphate (PIP3) level in MSCs and preadipocyte cells. Defects in PTPRQ are the cause of deafness autosomal recessive type 84 (DFNB84). DFNB84 is a form of non- syndromic deafness characterized by progressive, sensorineural hearing loss and vestibular dysfunction. Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily.

Protein type: EC 3.1.3.48; Receptor protein phosphatase, tyrosine; Phosphatase, lipid; Membrane protein, integral

Chromosomal Location of Human Ortholog: 12q21.2

Cellular Component: integral to membrane

Molecular Function: protein tyrosine phosphatase activity

Biological Process: regulation of fat cell differentiation

Disease: Deafness, Autosomal Recessive 84a