DISEASES

Disease-gene associations mined from literature

Literature associating PPP1R3B and Barre-Lieou syndrome

PPP1R3B [ENSP00000308318]

Protein phosphatase 1 regulatory subunit 3B; Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in hepatocytes (By similarity).

Synonyms:  PPP1R3B,  PPP1R3Bp,  hPPP1R3B,  Q86XI6,  Q86XI6p ...

Linkouts:  STRING  Pharos  UniProt  OMIM