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: Membrane protein, multi-pass; Receptor, GPCR; GPCR, family 1; Membrane protein, integral
Cellular Component: axon; brush border membrane; cell soma; dendrite; dendritic spine; nonmotile primary cilium; plasma membrane
Molecular Function: dopamine binding; dopamine D1 receptor-like receptor activity; dopamine receptor activity; drug binding; G-protein alpha-subunit binding
Biological Process: associative learning; dopamine receptor signaling pathway; dopamine receptor, adenylate cyclase activating pathway; dopamine receptor, phospholipase C activating pathway; G-protein signaling, adenylate cyclase activating pathway; mating behavior; negative regulation of blood pressure; negative regulation of cell migration; negative regulation of NAD(P)H oxidase activity; negative regulation of protein kinase activity; norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure; positive regulation of adenylate cyclase activity; positive regulation of cAMP biosynthetic process; regulation of female receptivity; regulation of long-term neuronal synaptic plasticity; regulation of systemic arterial blood pressure by vasopressin; response to amphetamine; response to cocaine; sensitization; synaptic transmission, dopaminergic; transmission of nerve impulse; visual learning; wound healing
Show more