The PPP1R3B gene is located on chromosome 8 and is expressed predominantly in liver and skeletal muscle tissues . The protein encoded by this gene acts as a glycogen-targeting subunit for PP1, facilitating its interaction with enzymes involved in glycogen metabolism . This interaction is essential for regulating the activity of PP1, which in turn controls the balance between glycogen synthesis and breakdown .
PPP1R3B enhances the rate at which PP1 activates glycogen synthase, an enzyme responsible for glycogen synthesis, and suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase, an enzyme involved in glycogen breakdown . This dual role is critical for maintaining proper glycogen levels in cells, especially in response to insulin signaling .
Mutations or dysregulation of the PPP1R3B gene have been associated with various metabolic disorders, including type 2 diabetes and maturity-onset diabetes of the young (MODY) . The gene’s role in glycogen metabolism makes it a potential target for therapeutic interventions aimed at managing these conditions .