Variants in MED16 gene cause intellectual disability MEDopathy
April 28, 2025
The Mediator complex is a system that regulates protein-coding gene transcription, where mediator of RNA polymerase II transcription subunit 16 (MED16) is a subunit belonging to this system. Pathogenic genetic variants in Mediator complex subunits usually lead to neurodevelopmental and neurodegenerative diseases with a variety of clinical symptoms, usually designated as MEDopathies.