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: GPCR, family 1; Receptor, GPCR; Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 4p16.1
Cellular Component: brush border membrane; integral to plasma membrane; nonmotile primary cilium; plasma membrane
Molecular Function: dopamine binding; dopamine D1 receptor-like receptor activity; dopamine receptor activity
Biological Process: adenylate cyclase activation; associative learning; cellular calcium ion homeostasis; dopamine receptor, adenylate cyclase activating pathway; dopamine receptor, phospholipase C activating pathway; G-protein signaling, adenylate cyclase activating pathway; learning; negative regulation of blood pressure; negative regulation of NAD(P)H oxidase activity; norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure; positive regulation of adenylate cyclase activity; regulation of female receptivity; regulation of systemic arterial blood pressure by vasopressin; response to amphetamine; response to cocaine; sensitization; synaptic transmission; synaptic transmission, dopaminergic; transmission of nerve impulse; wound healing
Disease: Attention Deficit-hyperactivity Disorder; Blepharospasm, Benign Essential
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