GRK6

The protein phosphorylates activated G protein-coupled receptors to initiate their desensitization and internalization, with particular involvement in dopamine receptor regulation in the striatum and chemokine receptor signaling. Mutations cause autosomal recessive dystonia-26 with early childhood onset, characterized by progressive movement disorders affecting the limbs and sometimes involving additional neurological features. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is poorly tolerated.