PPP1R3C

Ideogram human chromosome 10

PPP1R3C is a gene that encodes a regulatory subunit of protein phosphatase 1 (PP1). This gene is located on chromosome 10q22.1. The protein encoded by PPP1R3C plays a crucial role in glycogen metabolism by regulating the activity of PP1, which is involved in glycogen synthesis and degradation.

Function

PPP1R3C is a regulatory subunit of PP1, a key enzyme involved in glycogen metabolism. This gene product binds to PP1 and targets it to glycogen particles, where it regulates the dephosphorylation of glycogen synthase and glycogen phosphorylase. By modulating the activity of PP1, PPP1R3C plays a critical role in the balance between glycogen synthesis and breakdown.

Clinical Significance

Mutations in the PPP1R3C gene have been associated with certain metabolic disorders, including glycogen storage diseases. Dysregulation of glycogen metabolism due to mutations in PPP1R3C can lead to abnormal glycogen accumulation or depletion in tissues, resulting in various metabolic abnormalities.

Interactions

PPP1R3C interacts with protein phosphatase 1 (PP1) to regulate its activity in glycogen metabolism. This interaction is essential for the proper control of glycogen synthesis and degradation processes within cells.