DISEASES

Disease-gene associations mined from literature

Literature associating PTPRQ and dyschromatosis universalis hereditaria

PTPRQ [ENSP00000482885]

Protein tyrosine phosphatase, receptor type, Q; 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; Deafness associated genes

Synonyms:  PTPRQ,  F8VW52,  F8VXI2,  F8W122,  F8VW52p ...

Linkouts:  STRING  Pharos