DRD2 encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in DRD2 causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of DRD2 results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing.
