disease:Defects in DRD5 are a cause of benign essential blepharospasm (BEB) [MIM:606798]. BEB is a primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness.,disease:Defects in DRD5 may be a cause of schizophrenia, but no proof has yet been found.,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 activate adenylyl cyclase.,similarity:Belongs to the G-protein coupled receptor 1 family.,tissue specificity:Neuron-specific, localized primarily within limbic regions of the brain.,
Cell membrane; Multi-pass membrane protein.
Neuron-specific, localized primarily within limbic regions of the brain.