PSMD6

The encoded protein is a component of the 26S proteasome, a multiprotein complex that degrades ubiquitinated proteins in an ATP-dependent manner to maintain cellular protein homeostasis and participate in cell cycle progression, apoptosis, and DNA damage repair. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy or early childhood. This gene is highly constrained against loss-of-function mutations in the general population.