Disease:Defects in DRD2 are associated with dystonia type 11 (DYT11) [MIM:159900]; also known as alcohol-responsive dystonia. DYT11 is a myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.,Disease:It has been suggested that DRD2 is involved in psychiatric disorders; especially in schizophrenia.,Function:This is one of the five types (D1 to D5) of receptors for dopamine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase.,polymorphism:Genetic variations in DRD2 may determine the genetic susceptibility to alcoholism [MIM:103780]. Genetic variations in DRD2 might be a protective factor against the development of withdrawal symptoms but might also be a risk factor in a highly burdened subgroup of alcoholics with a paternal and grandpaternal history of alcoholism and might contribute to suicide risk in alcoholics.,similarity:Belongs to the G-protein coupled receptor 1 family.,subunit:Interacts with GPRASP1, PPP1R9B and CLIC6 (By similarity). Interacts with CADPS and CADPS2.,
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