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  • Human DRD5 wild-type allele is located in the vicinity of 4p16.1 and is approximately 2 kb in length. This allele, which encodes D(1B) dopamine receptor protein, plays a role in the stimulation of adenylate cyclase activity and intracellular accumulation of cAMP. Defects in DRD5 are a cause of blepharospasm, a primary focal dystonia affecting the orbicularis oculi muscles.
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