DRD5
Function
Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase.
Involvement in disease
Benign essential blepharospasm
BEB
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.
None
Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
Tissue Specificity
Neuron-specific, localized primarily within limbic regions of the brain.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
DRD1B, DRD1L2, DRD5, D(1B) dopamine receptor, D(5) dopamine receptor, D1beta dopamine receptor, Dopamine D5 receptor