DRD5: Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase. Defects in DRD5 are a cause of benign essential blepharospasm (BEB). 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. Belongs to the G-protein coupled receptor 1 family.
Protein type: Receptor, GPCR; Membrane protein, multi-pass; GPCR, family 1; Membrane protein, integral
Cellular Component: cell soma; axon; integral to plasma membrane; brush border membrane; dendrite; dendritic spine; plasma membrane
Molecular Function: protein binding; dopamine receptor activity; dopamine binding; G-protein alpha-subunit binding; dopamine D1 receptor-like receptor activity; drug binding
Biological Process: regulation of long-term neuronal synaptic plasticity; synaptic transmission, dopaminergic; wound healing; response to amphetamine; mating behavior; transmission of nerve impulse; norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure; response to cocaine; G-protein signaling, adenylate cyclase activating pathway; synaptic transmission; regulation of female receptivity; regulation of systemic arterial blood pressure by vasopressin; sensitization; positive regulation of cAMP biosynthetic process; dopamine receptor signaling pathway; visual learning; negative regulation of protein kinase activity; negative regulation of blood pressure; positive regulation of adenylate cyclase activity; negative regulation of NAD(P)H oxidase activity; negative regulation of cell migration; associative learning; dopamine receptor, adenylate cyclase activating pathway
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