| 背景信息 |
Protein phosphatase 1 regulatory subunit 27 (PPP1R27), also known as Toonin, is a regulatory protein that inhibits the activity of protein phosphatase 1 (PP1) complexes. It functions by binding directly to the phosphatase and modulating its catalytic action on various substrates. One of its key interacting partners is dysferlin, suggesting a role in membrane-related signaling or repair. PPP1R27 is expressed across a wide range of tissues. Clinically, it is associated with skeletal disorders, specifically multiple epiphyseal dysplasia (MED). Mutations or dysregulation of this subunit contribute to developmental abnormalities of epiphyseal growth, leading to joint pain, stiffness, and the early onset of osteoarthritis due to malformation of bone and cartilage. |