DRD5 Human Recombinant Protein

This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]

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; Membrane protein, multi-pass; Membrane protein, integral; Receptor, GPCR

Chromosomal Location of Human Ortholog: 4p16.1

Cellular Component: brush border membrane; integral to plasma membrane; plasma membrane

Molecular Function: dopamine receptor activity; dopamine binding; dopamine D1 receptor-like receptor activity

Biological Process: synaptic transmission, dopaminergic; wound healing; adenylate cyclase activation; response to amphetamine; 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; cellular calcium ion homeostasis; synaptic transmission; regulation of female receptivity; regulation of systemic arterial blood pressure by vasopressin; sensitization; negative regulation of blood pressure; dopamine receptor, phospholipase C activating pathway; positive regulation of adenylate cyclase activity; negative regulation of NAD(P)H oxidase activity; associative learning; dopamine receptor, adenylate cyclase activating pathway

Disease: Attention Deficit-hyperactivity Disorder; Blepharospasm, Benign Essential